diff --git a/AVADA.pm b/AVADA.pm index 4dec5306..57cd96d6 100644 --- a/AVADA.pm +++ b/AVADA.pm @@ -35,7 +35,7 @@ Automatic VAriant evidence DAtabase is a novel machine learning tool that uses n to automatically identify pathogenic genetic variant evidence in full-text primary literature about monogenic disease and convert it to genomic coordinates. -Please cite the AVADA publication alongside the VEP if you use this resource: +Please cite the AVADA publication alongside Ensembl VEP if you use this resource: https://pubmed.ncbi.nlm.nih.gov/31467448/ NB: The plugin currently does not annotate for downstream_gene_variant and upstream_gene_variant. diff --git a/AlphaMissense.pm b/AlphaMissense.pm index 30d9a8cd..e2b27b9a 100644 --- a/AlphaMissense.pm +++ b/AlphaMissense.pm @@ -70,7 +70,7 @@ limitations under the License. https://creativecommons.org/licenses/by/4.0/legalcode. Use of the AlphaMissense Database is subject to Google Cloud Platform Terms of Service - Please cite the AlphaMissense publication alongside the VEP + Please cite the AlphaMissense publication alongside Ensembl VEP if you use this resource: https://doi.org/10.1126/science.adg7492 Disclaimer: The AlphaMissense Database and other information provided on or linked to this site is diff --git a/AncestralAllele.pm b/AncestralAllele.pm index f5339a9b..cc635f7d 100644 --- a/AncestralAllele.pm +++ b/AncestralAllele.pm @@ -32,15 +32,15 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves ancestral allele sequences from a FASTA file. + An Ensembl VEP plugin that retrieves ancestral allele sequences from a FASTA file. Ensembl produces FASTA file dumps of the ancestral sequences of key species. - Data files for GRCh37: https://ftp.ensembl.org/pub/release-75/fasta/ancestral_alleles/ - Data files for GRCh38: https://ftp.ensembl.org/pub/current_fasta/ancestral_alleles/ For optimal retrieval speed, you should pre-process the FASTA files into a single - bgzipped file that can be accessed via 'Bio::DB::HTS::Faidx' (installed by VEP's - INSTALL.pl): + bgzipped file that can be accessed via 'Bio::DB::HTS::Faidx' (installed by + INSTALL.pl - see Ensembl/ensembl-vep repository): wget https://ftp.ensembl.org/pub/current_fasta/ancestral_alleles/homo_sapiens_ancestor_GRCh38.tar.gz tar xfz homo_sapiens_ancestor_GRCh38.tar.gz @@ -96,7 +96,7 @@ sub new { die("ERROR: Bio::DB::HTS required to access compressed FASTA file $fasta_file\n") if $type eq 'Bio::DB::HTS::Faidx' && !$CAN_USE_FAIDX; $self->index_type($type); - # init DB here so indexing doesn't happen at some point in the middle of VEP run + # init DB here so indexing doesn't happen at some point in the middle of a run $self->fasta_db; return $self; diff --git a/BayesDel.pm b/BayesDel.pm index 3847936d..b67a84f2 100644 --- a/BayesDel.pm +++ b/BayesDel.pm @@ -33,7 +33,7 @@ limitations under the License. =head1 DESCRIPTION This is a plugin for the Ensembl Variant Effect Predictor (VEP) that - adds the BayesDel scores to VEP output. + adds the BayesDel scores to Ensembl VEP output. BayesDel is a deleteriousness meta-score combining multiple deleteriousness predictors to create an overall score. It works for coding and non-coding variants, single nucleotide variants and small insertion/deletions. @@ -41,7 +41,7 @@ limitations under the License. The higher the score, the more likely the variant is pathogenic. For more information please visit: https://fenglab.chpc.utah.edu/BayesDel/BayesDel.html - Please cite the BayesDel publication alongside the Ensembl VEP if you use this resource: + Please cite the BayesDel publication alongside Ensembl VEP if you use this resource: https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23158 diff --git a/Blosum62.pm b/Blosum62.pm index 473665d9..55596a59 100644 --- a/Blosum62.pm +++ b/Blosum62.pm @@ -35,7 +35,7 @@ limitations under the License. This is a plugin for the Ensembl Variant Effect Predictor (VEP) that looks up the BLOSUM 62 substitution matrix score for the reference and alternative amino acids predicted for a missense mutation. It adds - one new entry to the VEP's Extra column, BLOSUM62 which is the + one new entry to the output, BLOSUM62, which is the associated score. =cut diff --git a/CADD.pm b/CADD.pm index e6ba2e79..5f18202f 100644 --- a/CADD.pm +++ b/CADD.pm @@ -34,10 +34,10 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves CADD scores for variants from one or more + An Ensembl VEP plugin that retrieves CADD scores for variants from one or more tabix-indexed CADD data files. - Please cite the CADD publication alongside the VEP if you use this resource: + Please cite the CADD publication alongside Ensembl VEP if you use this resource: https://www.ncbi.nlm.nih.gov/pubmed/24487276 The tabix utility must be installed in your path to use this plugin. diff --git a/CAPICE.pm b/CAPICE.pm index ea9f8cc6..2ca8c677 100644 --- a/CAPICE.pm +++ b/CAPICE.pm @@ -38,10 +38,10 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves CAPICE scores for variants from one or more + An Ensembl VEP plugin that retrieves CAPICE scores for variants from one or more tabix-indexed CAPICE data files, in order to predict their pathogenicity. - Please cite the CAPICE publication alongside the VEP if you use this resource: + Please cite the CAPICE publication alongside Ensembl VEP if you use this resource: https://pubmed.ncbi.nlm.nih.gov/32831124/ The tabix utility must be installed in your path to use this plugin. The CAPICE diff --git a/CCDSFilter.pm b/CCDSFilter.pm index 24def024..0ed686db 100644 --- a/CCDSFilter.pm +++ b/CCDSFilter.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A simple VEP filter plugin that limits output to variants that + A simple example Ensembl VEP filter plugin that limits output to variants that fall in transcripts which have CCDS coding sequences. =cut diff --git a/Carol.pm b/Carol.pm index b30d19d1..19569748 100644 --- a/Carol.pm +++ b/Carol.pm @@ -32,11 +32,11 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that calculates the Combined Annotation scoRing toOL (CAROL) + An Ensembl VEP plugin that calculates the Combined Annotation scoRing toOL (CAROL) score (1) for a missense mutation based on the pre-calculated SIFT (2) and PolyPhen-2 (3) scores from the Ensembl API (4). - It adds one new entry class to the VEP's Extra column, CAROL which is + It adds one new entry to the output, CAROL, which is the calculated CAROL score. Note that this module is a perl reimplementation of the original R script, available at: https://sanger.ac.uk/tool/carol/ diff --git a/ClinPred.pm b/ClinPred.pm index f8ea08cd..712321c1 100755 --- a/ClinPred.pm +++ b/ClinPred.pm @@ -27,7 +27,7 @@ limitations under the License. This is a plugin for the Ensembl Variant Effect Predictor (VEP) that adds pre-calculated scores from ClinPred. ClinPred is a prediction tool to identify disease-relevant nonsynonymous variants. - Please cite the ClinPred publication alongside the VEP if you use this resource: + Please cite the ClinPred publication alongside Ensembl VEP if you use this resource: https://www.sciencedirect.com/science/article/pii/S0002929718302714 ClinPred scores can be downloaded from diff --git a/Condel.pm b/Condel.pm index d5ead0e1..e3cdb360 100644 --- a/Condel.pm +++ b/Condel.pm @@ -32,11 +32,11 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that calculates the Consensus Deleteriousness (Condel) score (1) + An Ensembl VEP plugin that calculates the Consensus Deleteriousness (Condel) score (1) for a missense mutation based on the pre-calculated SIFT (2) and PolyPhen-2 (3) scores from the Ensembl API (4). - It adds one new entry class to the VEP's Extra column, Condel which is the + It adds one new entry to the output, Condel, which is the calculated Condel score. This version of Condel was developed by the Biomedical Genomics Group of the Universitat Pompeu Fabra, at the Barcelona Biomedical Research Park and available at https://bg.upf.edu/condel. The code in this diff --git a/DAS.pm b/DAS.pm index 86e34fe4..573c9511 100644 --- a/DAS.pm +++ b/DAS.pm @@ -25,7 +25,7 @@ =head1 DESCRIPTION - A simple VEP plugin that checks for DAS features overlapping variants. Currently assumes that + An Ensembl VEP plugin that checks for DAS features overlapping variants. Currently assumes that the assemblies match, and doesn't do any smart fetching of chunks of features (i.e. the plugin will query the DAS server once for every variant in the input file). diff --git a/DeNovo.pm b/DeNovo.pm index 4a5b34eb..59aac8dc 100644 --- a/DeNovo.pm +++ b/DeNovo.pm @@ -33,7 +33,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that identifies de novo variants in a VCF file. + An Ensembl VEP plugin that identifies de novo variants in a VCF file. The plugin is not compatible with JSON output format. Options are passed to the plugin as key=value pairs: diff --git a/DosageSensitivity.pm b/DosageSensitivity.pm index f6e0f7a5..cc04e7d8 100644 --- a/DosageSensitivity.pm +++ b/DosageSensitivity.pm @@ -33,11 +33,11 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves haploinsufficiency and triplosensitivity probability scores + An Ensembl VEP plugin that retrieves haploinsufficiency and triplosensitivity probability scores for affected genes from a dosage sensitivity catalogue published in paper - https://www.sciencedirect.com/science/article/pii/S0092867422007887 - Please cite the above publication alongside the VEP if you use this resource. + Please cite the above publication alongside Ensembl VEP if you use this resource. This plugin returns two scores: - pHaplo score gives the probability of a gene being haploinsufficient (deletion intolerant) diff --git a/Downstream.pm b/Downstream.pm index 5acbe9cb..8e5f844c 100755 --- a/Downstream.pm +++ b/Downstream.pm @@ -43,7 +43,7 @@ limitations under the License. translation. Any variants with a splice site consequence type are ignored. - If VEP is run in offline mode using the flag --offline, a FASTA file is required. + In run in offline mode, using the flag --offline, a FASTA file is required. See: https://www.ensembl.org/info/docs/tools/vep/script/vep_cache.html#fasta Sequence may be incomplete without a FASTA file or database connection. diff --git a/Draw.pm b/Draw.pm index 0fe20c51..e50bab7f 100644 --- a/Draw.pm +++ b/Draw.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that draws pictures of the transcript model showing the + An Ensembl VEP plugin that draws pictures of the transcript model showing the variant location. Takes five optional paramters: diff --git a/EVE.pm b/EVE.pm index 622f68d5..b686fd10 100644 --- a/EVE.pm +++ b/EVE.pm @@ -40,7 +40,7 @@ limitations under the License. and does not merge input lines to report on adjacent variants. It is only available for GRCh38. - Please cite EVE publication alongside the VEP if you use this resource: + Please cite EVE publication alongside Ensembl VEP if you use this resource: https://www.nature.com/articles/s41586-021-04043-8 ################################################### diff --git a/Enformer.pm b/Enformer.pm index 56b58328..042581a1 100644 --- a/Enformer.pm +++ b/Enformer.pm @@ -30,7 +30,7 @@ limitations under the License. This plugin is available for GRCh37 and GRCh38 - Please cite the Enformer publication alongside the VEP if you use this resource: + Please cite the Enformer publication alongside Ensembl VEP if you use this resource: https://www.nature.com/articles/s41592-021-01252-x GRCh38 scores were lifted over using CrossMap from the Enformer scores available here - https://console.cloud.google.com/storage/browser/dm-enformer/variant-scores/1000-genomes/enformer diff --git a/FATHMM.pm b/FATHMM.pm index 1febc5d7..1fc079f0 100644 --- a/FATHMM.pm +++ b/FATHMM.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that gets FATHMM scores and predictions for missense variants. + An Ensembl VEP plugin that gets FATHMM scores and predictions for missense variants. You will need the fathmm.py script and its dependencies (Python, Python MySQLdb). You should create a "config.ini" file in the same directory as the diff --git a/FATHMM_MKL.pm b/FATHMM_MKL.pm index 826be93d..54f38863 100644 --- a/FATHMM_MKL.pm +++ b/FATHMM_MKL.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves FATHMM-MKL scores for variants from a tabix-indexed + An Ensembl VEP plugin that retrieves FATHMM-MKL scores for variants from a tabix-indexed FATHMM-MKL data file. See https://github.com/HAShihab/fathmm-MKL for details. diff --git a/FlagLRG.pm b/FlagLRG.pm index 8e9db65d..c7e391df 100644 --- a/FlagLRG.pm +++ b/FlagLRG.pm @@ -31,7 +31,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves the LRG ID matching either the RefSeq or Ensembl + An Ensembl VEP plugin that retrieves the LRG ID matching either the RefSeq or Ensembl transcript IDs. You can obtain the 'list_LRGs_transcripts_xrefs.txt' using: diff --git a/FunMotifs.pm b/FunMotifs.pm index bbf0780c..d0cf63fd 100644 --- a/FunMotifs.pm +++ b/FunMotifs.pm @@ -34,15 +34,15 @@ limitations under the License. Parameters Required: [0] : FunMotifs BED file - [1]+ : List of columns to include within VEP output (e.g. fscore, skin, contactingdomain) + [1]+ : List of columns to include within the output (e.g. fscore, skin, contactingdomain) =head1 DESCRIPTION This is a plugin for the Ensembl Variant Effect Predictor (VEP) that - adds tissue-specific transcription factor motifs from FunMotifs to VEP output. + adds tissue-specific transcription factor motifs from FunMotifs to the output. - Please cite the FunMotifs publication alongside the VEP if you use this resource. + Please cite the FunMotifs publication alongside Ensembl VEP if you use this resource. The preprint can be found at: https://www.biorxiv.org/content/10.1101/683722v1 FunMotifs files can be downloaded from: http://bioinf.icm.uu.se:3838/funmotifs/ diff --git a/G2P.pm b/G2P.pm index 2d500d90..3184ec7b 100644 --- a/G2P.pm +++ b/G2P.pm @@ -31,7 +31,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that uses G2P allelic requirements to assess variants in genes + An Ensembl VEP plugin that uses G2P allelic requirements to assess variants in genes for potential phenotype involvement. The plugin has multiple configuration options, though minimally requires only @@ -450,7 +450,7 @@ sub new { $self->{config}->{sift} = 'b'; $self->{config}->{polyphen} = 'b'; - # tell VEP we have a cache so stuff gets shared/merged between forks + # we have a cache; needs those data to get shared/merged between forks $self->{has_cache} = 1; $self->{cache}->{g2p_in_vcf} = {}; @@ -503,7 +503,7 @@ sub get_header_info { - variant include list - allele frequency Based on the filtering results check if the allelic requirement is fulfilled and write results to hash. - Dump annnotations to a log file for generating TXT and HTML output files after VEP has finished. + Dump annnotations to a log file for generating TXT and HTML output files after run has finished. Returntype : Hashref $results Exceptions : None Caller : General diff --git a/GO.pm b/GO.pm index 129c5fce..96936d07 100644 --- a/GO.pm +++ b/GO.pm @@ -47,14 +47,14 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves Gene Ontology (GO) terms associated with + An Ensembl VEP plugin that retrieves Gene Ontology (GO) terms associated with transcripts (e.g. GRCh38) or their translations (e.g. GRCh37) using custom GFF annotation containing GO terms. The custom GFF files are automatically created if the input file do not exist by querying the Ensembl core database, according to database version, species - and assembly used in VEP. Note that automatic retrieval fails if using the - --offline option. + and assembly used in Ensembl VEP. Note that automatic retrieval fails if using + the --offline option. The GFF files containing the GO terms are saved to and loaded from the working directory by default. To change this, provide a directory path as an argument: diff --git a/GWAS.pm b/GWAS.pm index 13fea959..cfa44e01 100644 --- a/GWAS.pm +++ b/GWAS.pm @@ -33,13 +33,13 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves relevant NHGRI-EBI GWAS Catalog data given the file. + An Ensembl VEP plugin that retrieves relevant NHGRI-EBI GWAS Catalog data given the file. This plugin supports both the curated data that is found in the download section of the NHGRI-EBI GWAS Catalog website and the summary statistics file. By default the plugin assumes the file provided is the curated file but you can pass "type=sstate" to say you want to annotate with a summary statistics file. - Please cite the following publication alongside the VEP if you use this resource: + Please cite the following publication alongside Ensembl VEP if you use this resource: https://pubmed.ncbi.nlm.nih.gov/30445434/ Pre-requisites: diff --git a/GeneBe.pm b/GeneBe.pm index 5f8e1cd0..bcdc9699 100644 --- a/GeneBe.pm +++ b/GeneBe.pm @@ -31,10 +31,10 @@ limitations under the License. =head1 DESCRIPTION - A user-contributed VEP plugin that retrieves automatic ACMG variant classification data from + A user-contributed Ensembl VEP plugin that retrieves automatic ACMG variant classification data from https://genebe.net/ - Please cite the GeneBe publication alongside the VEP if you use this resource: + Please cite the GeneBe publication alongside Ensembl VEP if you use this resource: https://onlinelibrary.wiley.com/doi/10.1111/cge.14516 . Please be advised that the GeneBe API is freely accessible for academic purposes only, with a limited diff --git a/GeneSplicer.pm b/GeneSplicer.pm index 1b8ffc78..5ee22eec 100644 --- a/GeneSplicer.pm +++ b/GeneSplicer.pm @@ -94,7 +94,7 @@ limitations under the License. Example: --plugin GeneSplicer,binary=$GS/bin/linux/genesplicer,training=$GS/human,context=200,tmpdir=/mytmp - When using VEP Docker/Singularity, the `binary` argument can be ommitted, as + When using Ensembl VEP Docker/Singularity, the `binary` argument can be ommitted, as the `genesplicer` command is exported in the $PATH variable and is thus automatically detected by the plugin: --plugin GeneSplicer,training=$GS/human,context=200,tmpdir=/mytmp diff --git a/Geno2MP.pm b/Geno2MP.pm index d05bc442..595d72a0 100644 --- a/Geno2MP.pm +++ b/Geno2MP.pm @@ -38,7 +38,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that adds information from Geno2MP, a web-accessible database of + An Ensembl VEP plugin that adds information from Geno2MP, a web-accessible database of rare variant genotypes linked to phenotypic information. Parameters can be set using a key=value system: @@ -48,7 +48,7 @@ limitations under the License. url : build and return URL to Geno2MP variant page (boolean; 0 by default); the variant location in Geno2MP website is based on GRCh37 coordinates - Please cite Geno2MP alongside the VEP if you use this resource: + Please cite Geno2MP alongside Ensembl VEP if you use this resource: Geno2MP, NHGRI/NHLBI University of Washington-Center for Mendelian Genomics (UW-CMG), Seattle, WA (URL: http://geno2mp.gs.washington.edu [date (month, yr) accessed]). diff --git a/HGVSIntronOffset.pm b/HGVSIntronOffset.pm index c4d1a753..678770a0 100644 --- a/HGVSIntronOffset.pm +++ b/HGVSIntronOffset.pm @@ -31,7 +31,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin for the Ensembl Variant Effect Predictor (VEP) that returns + An Ensembl VEP plugin for the Ensembl Variant Effect Predictor (VEP) that returns HGVS intron start and end offsets. To be used with --hgvs option. =cut diff --git a/IntAct.pm b/IntAct.pm index 2d369138..99ba30d6 100644 --- a/IntAct.pm +++ b/IntAct.pm @@ -33,9 +33,9 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves molecular interaction data for variants as reprted by IntAct database. + An Ensembl VEP plugin that retrieves molecular interaction data for variants as reprted by IntAct database. - Please cite the IntAct publication alongside the VEP if you use this resource: + Please cite the IntAct publication alongside Ensembl VEP if you use this resource: https://pubmed.ncbi.nlm.nih.gov/24234451/ Pre-requisites: @@ -75,7 +75,7 @@ limitations under the License. See what these options mean - https://www.ebi.ac.uk/intact/download/datasets#mutations Note that, interaction accession can be used to link to full details on the interaction website. For example, - where the VEP output reports an interaction_ac of EBI-12501485, the URL would be : + where the output reports an interaction_ac of EBI-12501485, the URL would be : https://www.ebi.ac.uk/intact/details/interaction/EBI-12501485 diff --git a/LD.pm b/LD.pm index da3d86ff..01029c6c 100644 --- a/LD.pm +++ b/LD.pm @@ -34,11 +34,11 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that finds variants in linkage disequilibrium with any overlapping + An Ensembl VEP plugin that finds variants in linkage disequilibrium with any overlapping existing variants from the Ensembl variation databases. You can configure the population used to calculate the r2 value, and the - r2 cutoff used by passing arguments to the plugin via the VEP command line + r2 cutoff used by passing arguments to the plugin via the command line (separated by commas). This plugin adds a single new entry to the Extra column with a comma-separated list of linked variant IDs and the associated r2 values: LinkedVariants=rs123:0.879,rs234:0.943 @@ -48,7 +48,7 @@ limitations under the License. cutoff used is 0.8. WARNING: Calculating LD is a relatively slow procedure, so this will - slow VEP down considerably when running on large numbers of + increase runtime considerably when running on large numbers of variants. Consider running vep followed by filter_vep to get a smaller input set: @@ -62,7 +62,7 @@ limitations under the License. LD calculation requires additional installation steps. - The JSON perl library is required; see VEP's installation instructions + The JSON perl library is required; see Ensembl VEP's installation instructions for guidance: http://www.ensembl.org/info/docs/tools/vep/script/vep_download.html#additional A binary from the ensembl-variation git repository must be compiled and either diff --git a/LOVD.pm b/LOVD.pm index a9b5da4e..b14155ef 100644 --- a/LOVD.pm +++ b/LOVD.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves LOVD variation data from http://www.lovd.nl/. + An Ensembl VEP plugin that retrieves LOVD variation data from http://www.lovd.nl/. Please be aware that LOVD is a public resource of curated variants, therefore please respect this resource and avoid intensive querying of their databases diff --git a/LoFtool.pm b/LoFtool.pm index a3ffabf0..3b38387f 100644 --- a/LoFtool.pm +++ b/LoFtool.pm @@ -33,7 +33,7 @@ limitations under the License. =head1 DESCRIPTION - Add LoFtool scores to the VEP output. + Add LoFtool scores to Ensembl VEP output. LoFtool provides a rank of genic intolerance and consequent susceptibility to disease based on the ratio of Loss-of-function (LoF) diff --git a/LocalID.pm b/LocalID.pm index fcf40a77..c318042c 100755 --- a/LocalID.pm +++ b/LocalID.pm @@ -55,10 +55,10 @@ limitations under the License. Requires sqlite3. A local sqlite3 database is used to look up variant IDs; this is generated either from Ensembl's - public database (very slow, but includes synonyms), or from a VEP cache file (faster, excludes + public database (very slow, but includes synonyms), or from Ensembl VEP cache file (faster, excludes synonyms). - NB this plugin is NOT compatible with the ensembl-tools variant_effect_predictor.pl version of VEP. + NB: this plugin is NOT compatible with the ensembl-tools variant_effect_predictor.pl version of Ensembl VEP. =cut diff --git a/MPC.pm b/MPC.pm index bdb3706b..8f2a3640 100644 --- a/MPC.pm +++ b/MPC.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves MPC scores for variants from a tabix-indexed MPC data file. + An Ensembl VEP plugin that retrieves MPC scores for variants from a tabix-indexed MPC data file. MPC is a missense deleteriousness metric based on the analysis of genic regions depleted of missense mutations in the Exome Agggregation Consortium (ExAC) data. diff --git a/MTR.pm b/MTR.pm index c44c0b10..7597357e 100644 --- a/MTR.pm +++ b/MTR.pm @@ -16,7 +16,7 @@ =head1 DESCRIPTION -A VEP plugin that retrieves Missense Tolerance Ratio (MTR) scores for +An Ensembl VEP plugin that retrieves Missense Tolerance Ratio (MTR) scores for variants from a tabix-indexed flat file. MTR scores quantify the amount of purifying selection acting @@ -26,7 +26,7 @@ observed standing variation data from the WES component of the Exome Aggregation Consortium Database (ExAC), version 2.0 (http://gnomad.broadinstitute.org). -Please cite the MTR publication alongside the VEP if you use this resource: +Please cite the MTR publication alongside Ensembl VEP if you use this resource: http://genome.cshlp.org/content/27/10/1715 The Bio::DB::HTS perl library or tabix utility must be installed in your path to use this plugin. diff --git a/Mastermind.pm b/Mastermind.pm index 2580e3c5..7548bfc3 100644 --- a/Mastermind.pm +++ b/Mastermind.pm @@ -40,7 +40,7 @@ limitations under the License. to report variants that have clinical evidence cited in the medical literature. It is available for both GRCh37 and GRCh38. - Please cite the Mastermind publication alongside the VEP if you use this resource: + Please cite the Mastermind publication alongside Ensembl VEP if you use this resource: https://www.frontiersin.org/article/10.3389/fgene.2020.577152 Running options: @@ -98,7 +98,7 @@ limitations under the License. or with an option to also return the Mastermind URL (third flag): ./vep -i variations.vcf --plugin Mastermind,file=/path/to/mastermind_cited_variants_reference-XXXX.XX.XX.GRChXX-vcf.gz,mutations=0,var_iden=0,url=1 - Note: when running VEP in offline mode Mastermind requires a fasta file (--fasta) + Note: when running in offline mode Mastermind requires a fasta file (--fasta) =cut diff --git a/MaveDB.pm b/MaveDB.pm index 8df9c5e6..6d4dcf94 100644 --- a/MaveDB.pm +++ b/MaveDB.pm @@ -40,7 +40,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves data from MaveDB (https://www.mavedb.org), a + An Ensembl VEP plugin that retrieves data from MaveDB (https://www.mavedb.org), a database that contains multiplex assays of variant effect, including deep mutational scans and massively parallel report assays. @@ -60,7 +60,7 @@ limitations under the License. transcript_match : Return results only if (Ensembl or RefSeq) transcript identifiers match (default: 1) - Please cite the MaveDB publication alongside the VEP if you use this resource: + Please cite the MaveDB publication alongside Ensembl VEP if you use this resource: https://doi.org/10.1186/s13059-019-1845-6 The tabix utility must be installed in your path to use this plugin. diff --git a/NearestGene.pm b/NearestGene.pm index 222c812e..396d0824 100755 --- a/NearestGene.pm +++ b/NearestGene.pm @@ -47,8 +47,8 @@ limitations under the License. --plugin NearestGene,limit=3,max_range=50000 - This plugin requires a database connection. It cannot be run with VEP - in offline mode i.e. using the --offline flag. + This plugin requires a database connection. It cannot be run in offline mode i.e. using + the --offline flag. =cut diff --git a/NonSynonymousFilter.pm b/NonSynonymousFilter.pm index 13711b28..a56883aa 100644 --- a/NonSynonymousFilter.pm +++ b/NonSynonymousFilter.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A simple example VEP filter plugin that limits output to non-synonymous variants + A simple example Ensembl VEP filter plugin that limits output to non-synonymous variants =cut diff --git a/OpenTargets.pm b/OpenTargets.pm index 74b7bec0..83f1316a 100644 --- a/OpenTargets.pm +++ b/OpenTargets.pm @@ -37,7 +37,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that integrates data from Open Targets Genetics + An Ensembl VEP plugin that integrates data from Open Targets Genetics (https://genetics.opentargets.org), a tool that highlights variant-centric statistical evidence to allow both prioritisation of candidate causal variants at trait-associated loci and identification of potential drug targets. @@ -54,8 +54,8 @@ limitations under the License. cols : (optional) Colon-separated list of columns to return from the plugin file (default: "l2g:geneId"); use 'all' to print all data - Please cite the Open Targets Genetics publication alongside the VEP if you use - this resource: https://doi.org/10.1093/nar/gkaa84 + Please cite the Open Targets Genetics publication alongside Ensembl VEP if + you use this resource: https://doi.org/10.1093/nar/gkaa84 =cut diff --git a/Paralogues.pm b/Paralogues.pm index b97dd897..ed084b27 100644 --- a/Paralogues.pm +++ b/Paralogues.pm @@ -31,7 +31,7 @@ limitations under the License. # Find paralogue regions of all input variants using Ensembl paralogue annotation # (automatically created if not in current directory) and fetch variants within - # those regions from VEP cache and whose clinical significance partially + # those regions from Ensembl VEP cache and whose clinical significance partially # matches 'pathogenic' ./vep -i variations.vcf --cache --plugin Paralogues @@ -59,7 +59,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that fetches variants overlapping the genomic coordinates of amino + An Ensembl VEP plugin that fetches variants overlapping the genomic coordinates of amino acids aligned between paralogue proteins. This is useful to predict the pathogenicity of variants in paralogue positions. @@ -75,12 +75,12 @@ limitations under the License. After retrieving the paralogue regions, this plugin fetches variants overlapping those regions from one of the following sources (by this order): 1. Custom VCF via the 'vcf' parameter - 2. VEP cache (in cache/offline mode) + 2. Ensembl VEP cache (in cache/offline mode) 3. Ensembl API (in database mode) - To create a 'matches' file based on a custom set of variants, run VEP using + To create a 'matches' file based on a custom set of variants, run using `--plugin Paralogues,regions=1,min_perc_cov=0,min_perc_pos=0,clnsig=ignore` - and the `--vcf` option. Afterwards, process the output of the VEP command: + and the `--vcf` option. Afterwards, process the output of the command: `perl -e "use Paralogues; Paralogues::prepare_matches_file('variant_effect_output.txt')"` Options are passed to the plugin as key=value pairs: @@ -94,7 +94,7 @@ limitations under the License. does not exist, the annotation is automatically created); if set to 'remote', the annotation is fetched but not stored vcf : Tabix-indexed VCF file to fetch variant information (if not - used, variants are fetched from VEP cache in cache/offline + used, variants are fetched from Ensembl VEP cache in cache/offline mode or Ensembl API in database mode) fields : Colon-separated list of information from paralogue variants to @@ -104,7 +104,7 @@ limitations under the License. 'perc_cov', 'perc_pos', and 'clinical_significance' (if `clnsig_col` is defined for custom VCF); additional fields are available depending on variant source: - - VEP cache: 'end' and 'strand' + - Ensembl VEP cache: 'end' and 'strand' - Ensembl API: 'end', 'strand', 'source', 'consequence' and 'gene_symbol' - Custom VCF: 'quality', 'filter' and name of INFO fields diff --git a/PhenotypeOrthologous.pm b/PhenotypeOrthologous.pm index 927ffba3..b10d616c 100644 --- a/PhenotypeOrthologous.pm +++ b/PhenotypeOrthologous.pm @@ -32,7 +32,7 @@ PhenotypeOrthologous =head1 DESCRIPTION - A VEP plugin that retrieves phenotype information associated with orthologous genes from model organisms. + An Ensembl VEP plugin that retrieves phenotype information associated with orthologous genes from model organisms. The plugin annotates human variants and reports orthologous information from rat and mouse. The plugin is only available for GRCh38. diff --git a/Phenotypes.pm b/Phenotypes.pm index 826fc591..7a32f83b 100644 --- a/Phenotypes.pm +++ b/Phenotypes.pm @@ -46,7 +46,7 @@ Phenotypes =head1 DESCRIPTION - A VEP plugin that retrieves overlapping phenotype information. + An Ensembl VEP plugin that retrieves overlapping phenotype information. On the first run for each new version/species/assembly will download a GFF-format dump to ~/.vep/Plugins/ diff --git a/PolyPhen_SIFT.pm b/PolyPhen_SIFT.pm index 6eb454d5..aed380e5 100755 --- a/PolyPhen_SIFT.pm +++ b/PolyPhen_SIFT.pm @@ -45,9 +45,9 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves PolyPhen and SIFT predictions from a + An Ensembl VEP plugin that retrieves PolyPhen and SIFT predictions from a locally constructed SQLite database. It can be used when your main - source of VEP transcript annotation (e.g. a GFF file or GFF-based cache) + source of transcript annotation (e.g. a GFF file or GFF-based cache) does not contain these predictions. You must create a SQLite database of the predictions or point to the SQLite diff --git a/PostGAP.pm b/PostGAP.pm index fe5f4c3c..6719483a 100644 --- a/PostGAP.pm +++ b/PostGAP.pm @@ -23,7 +23,7 @@ limitations under the License. =head1 NAME - PostGAP - Ensembl Post-GWAS analysis pipeline (PostGAP) - Add PostGAP data fields to the VEP output + PostGAP - Ensembl Post-GWAS analysis pipeline (PostGAP) - Add PostGAP data fields to the output =head1 SYNOPSIS diff --git a/PrimateAI.pm b/PrimateAI.pm index 5958a8f9..cfb5973d 100644 --- a/PrimateAI.pm +++ b/PrimateAI.pm @@ -34,7 +34,7 @@ limitations under the License. =head1 DESCRIPTION - The PrimateAI VEP plugin is designed to retrieve clinical impact scores of + The PrimateAI plugin is designed to retrieve clinical impact scores of variants, as described in https://www.nature.com/articles/s41588-018-0167-z. Please consider citing the paper if using this plugin. diff --git a/REVEL.pm b/REVEL.pm index 330f0d87..1b707326 100644 --- a/REVEL.pm +++ b/REVEL.pm @@ -34,9 +34,9 @@ limitations under the License. =head1 DESCRIPTION This is a plugin for the Ensembl Variant Effect Predictor (VEP) that - adds the REVEL score for missense variants to VEP output. + adds the REVEL score for missense variants to the output. - Please cite the REVEL publication alongside the VEP if you use this resource: + Please cite the REVEL publication alongside Ensembl VEP if you use this resource: https://www.ncbi.nlm.nih.gov/pubmed/27666373 Running options: diff --git a/RankFilter.pm b/RankFilter.pm index 4e80d36d..9e945762 100644 --- a/RankFilter.pm +++ b/RankFilter.pm @@ -32,12 +32,12 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin filter that limits output of predictions to those ranked + An Ensembl VEP plugin filter that limits output of predictions to those ranked (by Ensembl) to be more severe (or at least as severe) as a user specified cutoff. The user can specify either a numerical rank (lower ranks are assumed to be - more severe) or an SO term to use as the (inclusive) cutoff on the VEP command + more severe) or an SO term to use as the (inclusive) cutoff on the command line. If a term is not specified the default cutoff term used is 'splice_region_variant' (rank = 8). diff --git a/RefSeqHGVS.pm b/RefSeqHGVS.pm index be29bc70..add842d7 100644 --- a/RefSeqHGVS.pm +++ b/RefSeqHGVS.pm @@ -1,6 +1,6 @@ =head1 NAME - RefSeqHGVS -- provide RefSeq-based HGVS tags for VEP output + RefSeqHGVS -- provide RefSeq-based HGVS tags for the output =head1 SYNOPSIS @@ -15,8 +15,8 @@ RefSeqHGVS is a plugin for Ensembl's Variant Effect Predictor that provides variant annotatoins in HGVS format [1] using RefSeq accessions - (typically NM and NP). It provides the analog to VEP's HGVSc and HGVSp - annotations, which use Ensembl ENST and ENSP accessions. This module + (typically NM and NP). It provides the analog to Ensembl VEP's HGVSc and + HGVSp annotations, which use Ensembl ENST and ENSP accessions. This module relies RefSeq data in the OtherFeatures database. Converting ENST HGVS tags to RefSeq tags is confounded subtle differences diff --git a/RiboseqORFs.pm b/RiboseqORFs.pm index c9fd0074..6d40473e 100644 --- a/RiboseqORFs.pm +++ b/RiboseqORFs.pm @@ -31,7 +31,7 @@ limitations under the License. =head1 DESCRIPTION - This is a VEP plugin that uses a standardized catalog of human Ribo-seq ORFs to + An Ensembl VEP plugin that uses a standardized catalog of human Ribo-seq ORFs to re-calculate consequences for variants located in these translated regions. This plugin reports new consequences based on the evidence from the Ribo-seq @@ -42,10 +42,10 @@ limitations under the License. bgzip Ribo-seq_ORFs.bed tabix Ribo-seq_ORFs.bed.gz - For optimal performance when running this plugin in VEP, please use a FASTA + For optimal performance when running this plugin, please use a FASTA file (`--fasta`). A FASTA file is always required in offline mode. - Please cite the publication for the Ribo-seq ORF annotation alongside the VEP + Please cite the publication for the Ribo-seq ORF annotation alongside Ensembl VEP if you use this resource: https://doi.org/10.1038/s41587-022-01369-0 The tabix utility must be installed in your path to use this plugin. diff --git a/SameCodon.pm b/SameCodon.pm index 4943f308..d6796b4c 100644 --- a/SameCodon.pm +++ b/SameCodon.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that reports existing variants that fall in the same codon. + An Ensembl VEP plugin that reports existing variants that fall in the same codon. This plugin requires a database connection, can not be run in offline mode =cut diff --git a/SpliceAI.pm b/SpliceAI.pm index 7a8260d6..797388e3 100644 --- a/SpliceAI.pm +++ b/SpliceAI.pm @@ -33,7 +33,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves pre-calculated annotations from SpliceAI. + An Ensembl VEP plugin that retrieves pre-calculated annotations from SpliceAI. SpliceAI is a deep neural network, developed by Illumina, Inc that predicts splice junctions from an arbitrary pre-mRNA transcript sequence. By default, this plugin appends all scores from SpliceAI files. @@ -50,7 +50,7 @@ limitations under the License. More information can be found at: https://pypi.org/project/spliceai/ - Please cite the SpliceAI publication alongside VEP if you use this resource: + Please cite the SpliceAI publication alongside Ensembl VEP if you use this resource: https://www.ncbi.nlm.nih.gov/pubmed/30661751 Running options: @@ -79,7 +79,7 @@ limitations under the License. Gene matching: SpliceAI can contain scores for multiple genes that overlap a variant, - and VEP can also predict consequences on multiple genes for a given variant. + and Ensembl VEP can also predict consequences on multiple genes for a given variant. The plugin only returns SpliceAI scores for the gene symbols that match (if any). If plugin is run with option 2, the output also contains a flag: "PASS" if delta score diff --git a/SpliceVault.pm b/SpliceVault.pm index bcda3502..8563d6da 100644 --- a/SpliceVault.pm +++ b/SpliceVault.pm @@ -36,7 +36,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves SpliceVault data to predict exon-skipping events + An Ensembl VEP plugin that retrieves SpliceVault data to predict exon-skipping events and activated cryptic splice sites based on the most common mis-splicing events around a splice site. @@ -67,7 +67,7 @@ limitations under the License. based on a minimum number of samples or minimum depth in GTEx. - SpliceAI delta score (provided by SpliceVault) - Please cite the SpliceVault publication alongside the VEP if you use this + Please cite the SpliceVault publication alongside Ensembl VEP if you use this resource: https://pubmed.ncbi.nlm.nih.gov/36747048 The tabix utility must be installed in your path to use this plugin. The diff --git a/StructuralVariantOverlap.pm b/StructuralVariantOverlap.pm index 4fb1a3aa..c404224a 100644 --- a/StructuralVariantOverlap.pm +++ b/StructuralVariantOverlap.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves information from overlapping structural variants. + An Ensembl VEP plugin that retrieves information from overlapping structural variants. Parameters can be set using a key=value system: diff --git a/SubsetVCF.pm b/SubsetVCF.pm index b60c96e5..ec6878b5 100644 --- a/SubsetVCF.pm +++ b/SubsetVCF.pm @@ -26,7 +26,7 @@ =head1 DESCRIPTION - A VEP plugin to retrieve overlapping records from a given VCF file. + An Ensembl VEP plugin to retrieve overlapping records from a given VCF file. Values for POS, ID, and ALT, are retrieved as well as values for any requested INFO field. Additionally, the allele number of the matching ALT is returned. diff --git a/TSSDistance.pm b/TSSDistance.pm index 7c4d6530..78a45766 100644 --- a/TSSDistance.pm +++ b/TSSDistance.pm @@ -35,7 +35,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that calculates the distance from the transcription + An Ensembl VEP plugin that calculates the distance from the transcription start site for upstream variants. Or variants in both directions if parameter `both_direction=1` is provided. diff --git a/TranscriptAnnotator.pm b/TranscriptAnnotator.pm index 04b1935f..9da27e1c 100644 --- a/TranscriptAnnotator.pm +++ b/TranscriptAnnotator.pm @@ -32,7 +32,7 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that annotates variant-transcript pairs based on a given file: + An Ensembl VEP plugin that annotates variant-transcript pairs based on a given file: --plugin TranscriptAnnotator,file=${HOME}/file.tsv.gz diff --git a/UTRAnnotator.pm b/UTRAnnotator.pm index 79fb04b4..e22afc29 100755 --- a/UTRAnnotator.pm +++ b/UTRAnnotator.pm @@ -33,8 +33,8 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that annotates the effect of 5' UTR variant especially for variant creating/disrupting upstream ORFs. - Available for both GRCh37 and GRCh38. + An Ensembl VEP plugin that annotates the effect of 5' UTR variant especially for variant creating/disrupting + upstream ORFs. Available for both GRCh37 and GRCh38. Options are passed to the plugin as key=value pairs: @@ -57,7 +57,7 @@ limitations under the License. You can find the original plugin here - https://github.com/ImperialCardioGenetics/UTRannotator - Please cite the UTRannotator publication alongside the Ensembl VEP if you use this resource - + Please cite the UTRannotator publication alongside Ensembl VEP if you use this resource - Annotating high-impact 5'untranslated region variants with the UTRannotator Zhang, X., Wakeling, M.N., Ware, J.S, Whiffin, N. Bioinformatics; doi: https://academic.oup.com/bioinformatics/advance-article/doi/10.1093/bioinformatics/btaa783/5905476 =cut diff --git a/VARITY.pm b/VARITY.pm index 9f0adb78..5a007413 100755 --- a/VARITY.pm +++ b/VARITY.pm @@ -34,9 +34,9 @@ limitations under the License. This is a plugin for the Ensembl Variant Effect Predictor (VEP) that adds the pre-computed VARITY scores to predict pathogenicity of - rare missense variants to VEP output. + rare missense variants to the output. - Please cite the VARITY publication alongside the VEP if you use this resource: + Please cite the VARITY publication alongside Ensembl VEP if you use this resource: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8715197/ Running options : diff --git a/dbNSFP.pm b/dbNSFP.pm index a9cdad25..04f22a6c 100755 --- a/dbNSFP.pm +++ b/dbNSFP.pm @@ -34,10 +34,10 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves data for missense variants from a tabix-indexed + An Ensembl VEP plugin that retrieves data for missense variants from a tabix-indexed dbNSFP file. - Please cite the dbNSFP publications alongside the VEP if you use this resource: + Please cite the dbNSFP publications alongside Ensembl VEP if you use this resource: - dbNSFP https://www.ncbi.nlm.nih.gov/pubmed/21520341 - dbNSFP v2.0 https://www.ncbi.nlm.nih.gov/pubmed/23843252 - dbNSFP v3.0 https://www.ncbi.nlm.nih.gov/pubmed/26555599 @@ -100,7 +100,7 @@ limitations under the License. scores retrieved from other sources. If the dbNSFP README file is found in the same directory as the data file, - column descriptions will be read from this and incorporated into the VEP output + column descriptions will be read from this and incorporated into the output file header. The plugin matches rows in the tabix-indexed dbNSFP file on: @@ -122,7 +122,7 @@ limitations under the License. --plugin dbNSFP,/path/to/dbNSFP.gz,transcript_match=1,col1,col2 NB 1: Using this flag may cause no value to return if the version of the Ensembl - transcript set differs between VEP and dbNSFP. + transcript set differs between Ensembl VEP and dbNSFP. NB 2: MutationTaster entries are keyed on a different set of transcript IDs. Using the 'transcript_match' flag with any MutationTaster field selected will have no effect diff --git a/dbscSNV.pm b/dbscSNV.pm index e611005a..33821e07 100644 --- a/dbscSNV.pm +++ b/dbscSNV.pm @@ -32,10 +32,10 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves data for splicing variants from a tabix-indexed + An Ensembl VEP plugin that retrieves data for splicing variants from a tabix-indexed dbscSNV file. - Please cite the dbscSNV publication alongside the VEP if you use this resource: + Please cite the dbscSNV publication alongside Ensembl VEP if you use this resource: http://nar.oxfordjournals.org/content/42/22/13534 The Bio::DB::HTS perl library or tabix utility must be installed in your path diff --git a/gnomADc.pm b/gnomADc.pm index 8244777e..42f44b64 100644 --- a/gnomADc.pm +++ b/gnomADc.pm @@ -25,7 +25,7 @@ limitations under the License. ./vep -i variations.vcf --plugin gnomADc,/path/to/gnomad.tsv.gz =head1 DESCRIPTION - A VEP plugin that retrieves gnomAD annotation from either the genome + An Ensembl VEP plugin that retrieves gnomAD annotation from either the genome or exome coverage files, available here: https://gnomad.broadinstitute.org/downloads diff --git a/mutfunc.pm b/mutfunc.pm index f90285e4..949875b7 100644 --- a/mutfunc.pm +++ b/mutfunc.pm @@ -33,9 +33,10 @@ limitations under the License. =head1 DESCRIPTION - A VEP plugin that retrieves data from mutfunc db predicting destabilization of protein structure, interaction interface, and motif. + An Ensembl VEP plugin that retrieves data from mutfunc db predicting destabilization of protein structure, + interaction interface, and motif. - Please cite the mutfunc publication alongside the VEP if you use this resource: + Please cite the mutfunc publication alongside Ensembl VEP if you use this resource: http://msb.embopress.org/content/14/12/e8430 Pre-requisites: diff --git a/neXtProt.pm b/neXtProt.pm index fe34c519..63c2e221 100644 --- a/neXtProt.pm +++ b/neXtProt.pm @@ -39,7 +39,7 @@ limitations under the License. through protein-related data for example, variant information, localization and interactions (https://www.nextprot.org/). - Please cite the neXtProt publication alongside the VEP if you use this resource: + Please cite the neXtProt publication alongside Ensembl VEP if you use this resource: https://doi.org/10.1093/nar/gkz995 This plugin is only suitable for small sets of variants as an additional diff --git a/pLI.pm b/pLI.pm index 22c2bf7e..62bbfa38 100644 --- a/pLI.pm +++ b/pLI.pm @@ -23,7 +23,7 @@ limitations under the License. =head1 NAME -pLI - Add pLI score to the VEP output +pLI - Add pLI score to the output =head1 SYNOPSIS @@ -34,8 +34,8 @@ pLI - Add pLI score to the VEP output =head1 DESCRIPTION - A VEP plugin that adds the probabililty of a gene being - loss-of-function intolerant (pLI) to the VEP output. + An Ensembl VEP plugin that adds the probabililty of a gene being + loss-of-function intolerant (pLI) to the output. Lek et al. (2016) estimated pLI using the expectation-maximization (EM) algorithm and data from 60,706 individuals from diff --git a/satMutMPRA.pm b/satMutMPRA.pm index b6498a0f..5674d89a 100644 --- a/satMutMPRA.pm +++ b/satMutMPRA.pm @@ -32,7 +32,7 @@ satMutMPRA =head1 DESCRIPTION -A VEP plugin that retrieves data for variants from a tabix-indexed satMutMPRA file (1-based file). +An Ensembl VEP plugin that retrieves data for variants from a tabix-indexed satMutMPRA file (1-based file). The saturation mutagenesis-based massively parallel reporter assays (satMutMPRA) measures variant effects on gene RNA expression for 21 regulatory elements (11 enhancers, 10 promoters).