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update README
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zqfang committed Aug 15, 2024
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9 changes: 6 additions & 3 deletions haplomap/README.md
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Expand Up @@ -67,7 +67,10 @@ zcat ${HOME}/data/VCFs/chr18.vcf.gz | bin/haplomap convert -o ${HOME}/data/SNPS/

### 2. Construct annotation file from ensemble-vep results

NOTE: Structural variants only support ensemble-vep inputs now !
NOTE:

1. Structural variants only support ensemble-vep inputs now !
2. Always check the variant name can be matched to `haplomap convert` output, since vep will change coordinate of variants in the output. Write your own annotation file if `haplomap annotate` did not work.

```shell
build/bin/haplomap annotate -o ${HOME}/data/SNPS/chr18.annotation.txt \
Expand All @@ -76,10 +79,10 @@ build/bin/haplomap annotate -o ${HOME}/data/SNPS/chr18.annotation.txt \
input.vep.txt
```

**About input file format**:
**About file format**:

1. To annotate each variant, one gene follow by one annotation string (concat by ! with multiple consequence).
2. missense, synonymous, stop codon covert to string like: TCT/S<->CCT/P!TCT/S<->TCT/S!GAC/D<->GAC/D!GAC/D<->GAT/D
2. For codon changes (missense, synonymous, stop), covert strings into a format like this: TCT/S<->CCT/P
3. To see all supported annotation, see [constants.cpp](src/constants.cpp)


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