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feat!: add chromosome lookup to sequence reference utils #67
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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -1,13 +1,18 @@ | ||
| """Provide fast liftover in Python via the ``chainfile`` crate.""" | ||
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| from agct.assembly_registry import Assembly, get_assembly_from_refget_id | ||
| from agct.converter import Converter, LiftoverResult, Strand, get_converter | ||
| from agct.seqref_registry import ( | ||
| Assembly, | ||
| get_refget_id_from_seqinfo, | ||
| get_seqinfo_from_refget_id, | ||
| ) | ||
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| __all__ = [ | ||
| "Assembly", | ||
| "Converter", | ||
| "LiftoverResult", | ||
| "Strand", | ||
| "get_assembly_from_refget_id", | ||
| "get_converter", | ||
| "get_refget_id_from_seqinfo", | ||
| "get_seqinfo_from_refget_id", | ||
| ] |
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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -0,0 +1,152 @@ | ||
| """Sequence reference registry. | ||
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| Maps refget accessions (``SQ.*``) to a tuple of (:class:`Assembly`, :class:`Chromosome`) | ||
| and exposes helpers to look up the assembly/chromosome for a given ID. The registry is | ||
| curated for internally-used builds (currently ``hg19``/``hg38``); extend as needed. | ||
| """ | ||
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| import logging | ||
| import re | ||
| from enum import StrEnum | ||
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| _logger = logging.getLogger(__name__) | ||
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| class Assembly(StrEnum): | ||
| """Constrain reference genome assembly values. | ||
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| We could conceivably support every UCSC chainfile offering, but for now, we'll | ||
| stick with internal use cases only. | ||
| """ | ||
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| HG38 = "hg38" | ||
| HG19 = "hg19" | ||
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| class Chromosome(StrEnum): | ||
| """Constrain chromosome values to UCSC-style names. | ||
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| This class should NOT be used to type-constrain input in the converter | ||
| module, because in practice, chainfiles can use any name for an accession. In practice, | ||
| though, we're mostly interested in UCSC chainfiles, so this class is provided as a | ||
| utility for likely-relevant chromosome names. | ||
| """ | ||
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| CHR1 = "chr1" | ||
| CHR2 = "chr2" | ||
| CHR3 = "chr3" | ||
| CHR4 = "chr4" | ||
| CHR5 = "chr5" | ||
| CHR6 = "chr6" | ||
| CHR7 = "chr7" | ||
| CHR8 = "chr8" | ||
| CHR9 = "chr9" | ||
| CHR10 = "chr10" | ||
| CHR11 = "chr11" | ||
| CHR12 = "chr12" | ||
| CHR13 = "chr13" | ||
| CHR14 = "chr14" | ||
| CHR15 = "chr15" | ||
| CHR16 = "chr16" | ||
| CHR17 = "chr17" | ||
| CHR18 = "chr18" | ||
| CHR19 = "chr19" | ||
| CHR20 = "chr20" | ||
| CHR21 = "chr21" | ||
| CHR22 = "chr22" | ||
| CHRX = "chrX" | ||
| CHRY = "chrY" | ||
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| REFGET_ID_INFO = { | ||
| "SQ.Ya6Rs7DHhDeg7YaOSg1EoNi3U_nQ9SvO": (Assembly.HG38, Chromosome.CHR1), | ||
| "SQ.pnAqCRBrTsUoBghSD1yp_jXWSmlbdh4g": (Assembly.HG38, Chromosome.CHR2), | ||
| "SQ.Zu7h9AggXxhTaGVsy7h_EZSChSZGcmgX": (Assembly.HG38, Chromosome.CHR3), | ||
| "SQ.HxuclGHh0XCDuF8x6yQrpHUBL7ZntAHc": (Assembly.HG38, Chromosome.CHR4), | ||
| "SQ.aUiQCzCPZ2d0csHbMSbh2NzInhonSXwI": (Assembly.HG38, Chromosome.CHR5), | ||
| "SQ.0iKlIQk2oZLoeOG9P1riRU6hvL5Ux8TV": (Assembly.HG38, Chromosome.CHR6), | ||
| "SQ.F-LrLMe1SRpfUZHkQmvkVKFEGaoDeHul": (Assembly.HG38, Chromosome.CHR7), | ||
| "SQ.209Z7zJ-mFypBEWLk4rNC6S_OxY5p7bs": (Assembly.HG38, Chromosome.CHR8), | ||
| "SQ.KEO-4XBcm1cxeo_DIQ8_ofqGUkp4iZhI": (Assembly.HG38, Chromosome.CHR9), | ||
| "SQ.ss8r_wB0-b9r44TQTMmVTI92884QvBiB": (Assembly.HG38, Chromosome.CHR10), | ||
| "SQ.2NkFm8HK88MqeNkCgj78KidCAXgnsfV1": (Assembly.HG38, Chromosome.CHR11), | ||
| "SQ.6wlJpONE3oNb4D69ULmEXhqyDZ4vwNfl": (Assembly.HG38, Chromosome.CHR12), | ||
| "SQ._0wi-qoDrvram155UmcSC-zA5ZK4fpLT": (Assembly.HG38, Chromosome.CHR13), | ||
| "SQ.eK4D2MosgK_ivBkgi6FVPg5UXs1bYESm": (Assembly.HG38, Chromosome.CHR14), | ||
| "SQ.AsXvWL1-2i5U_buw6_niVIxD6zTbAuS6": (Assembly.HG38, Chromosome.CHR15), | ||
| "SQ.yC_0RBj3fgBlvgyAuycbzdubtLxq-rE0": (Assembly.HG38, Chromosome.CHR16), | ||
| "SQ.dLZ15tNO1Ur0IcGjwc3Sdi_0A6Yf4zm7": (Assembly.HG38, Chromosome.CHR17), | ||
| "SQ.vWwFhJ5lQDMhh-czg06YtlWqu0lvFAZV": (Assembly.HG38, Chromosome.CHR18), | ||
| "SQ.IIB53T8CNeJJdUqzn9V_JnRtQadwWCbl": (Assembly.HG38, Chromosome.CHR19), | ||
| "SQ.-A1QmD_MatoqxvgVxBLZTONHz9-c7nQo": (Assembly.HG38, Chromosome.CHR20), | ||
| "SQ.5ZUqxCmDDgN4xTRbaSjN8LwgZironmB8": (Assembly.HG38, Chromosome.CHR21), | ||
| "SQ.7B7SHsmchAR0dFcDCuSFjJAo7tX87krQ": (Assembly.HG38, Chromosome.CHR22), | ||
| "SQ.w0WZEvgJF0zf_P4yyTzjjv9oW1z61HHP": (Assembly.HG38, Chromosome.CHRX), | ||
| "SQ.8_liLu1aycC0tPQPFmUaGXJLDs5SbPZ5": (Assembly.HG38, Chromosome.CHRY), | ||
| "SQ.S_KjnFVz-FE7M0W6yoaUDgYxLPc1jyWU": (Assembly.HG19, Chromosome.CHR1), | ||
| "SQ.9KdcA9ZpY1Cpvxvg8bMSLYDUpsX6GDLO": (Assembly.HG19, Chromosome.CHR2), | ||
| "SQ.VNBualIltAyi2AI_uXcKU7M9XUOuA7MS": (Assembly.HG19, Chromosome.CHR3), | ||
| "SQ.iy7Zfceb5_VGtTQzJ-v5JpPbpeifHD_V": (Assembly.HG19, Chromosome.CHR4), | ||
| "SQ.vbjOdMfHJvTjK_nqvFvpaSKhZillW0SX": (Assembly.HG19, Chromosome.CHR5), | ||
| "SQ.KqaUhJMW3CDjhoVtBetdEKT1n6hM-7Ek": (Assembly.HG19, Chromosome.CHR6), | ||
| "SQ.IW78mgV5Cqf6M24hy52hPjyyo5tCCd86": (Assembly.HG19, Chromosome.CHR7), | ||
| "SQ.tTm7wmhz0G4lpt8wPspcNkAD_qiminj6": (Assembly.HG19, Chromosome.CHR8), | ||
| "SQ.HBckYGQ4wYG9APHLpjoQ9UUe9v7NxExt": (Assembly.HG19, Chromosome.CHR9), | ||
| "SQ.-BOZ8Esn8J88qDwNiSEwUr5425UXdiGX": (Assembly.HG19, Chromosome.CHR10), | ||
| "SQ.XXi2_O1ly-CCOi3HP5TypAw7LtC6niFG": (Assembly.HG19, Chromosome.CHR11), | ||
| "SQ.105bBysLoDFQHhajooTAUyUkNiZ8LJEH": (Assembly.HG19, Chromosome.CHR12), | ||
| "SQ.Ewb9qlgTqN6e_XQiRVYpoUfZJHXeiUfH": (Assembly.HG19, Chromosome.CHR13), | ||
| "SQ.5Ji6FGEKfejK1U6BMScqrdKJK8GqmIGf": (Assembly.HG19, Chromosome.CHR14), | ||
| "SQ.zIMZb3Ft7RdWa5XYq0PxIlezLY2ccCgt": (Assembly.HG19, Chromosome.CHR15), | ||
| "SQ.W6wLoIFOn4G7cjopxPxYNk2lcEqhLQFb": (Assembly.HG19, Chromosome.CHR16), | ||
| "SQ.AjWXsI7AkTK35XW9pgd3UbjpC3MAevlz": (Assembly.HG19, Chromosome.CHR17), | ||
| "SQ.BTj4BDaaHYoPhD3oY2GdwC_l0uqZ92UD": (Assembly.HG19, Chromosome.CHR18), | ||
| "SQ.ItRDD47aMoioDCNW_occY5fWKZBKlxCX": (Assembly.HG19, Chromosome.CHR19), | ||
| "SQ.iy_UbUrvECxFRX5LPTH_KPojdlT7BKsf": (Assembly.HG19, Chromosome.CHR20), | ||
| "SQ.LpTaNW-hwuY_yARP0rtarCnpCQLkgVCg": (Assembly.HG19, Chromosome.CHR21), | ||
| "SQ.XOgHwwR3Upfp5sZYk6ZKzvV25a4RBVu8": (Assembly.HG19, Chromosome.CHR22), | ||
| "SQ.v7noePfnNpK8ghYXEqZ9NukMXW7YeNsm": (Assembly.HG19, Chromosome.CHRX), | ||
| "SQ.BT7QyW5iXaX_1PSX-msSGYsqRdMKqkj-": (Assembly.HG19, Chromosome.CHRY), | ||
| } | ||
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| REFGET_ID_LOOKUP = {v: k for k, v in REFGET_ID_INFO.items()} | ||
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| _ERROR_PATTERN = re.compile(r"^SQ\.[0-9A-Za-z_\\-]{32}$") | ||
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| def get_seqinfo_from_refget_id( | ||
| refget_accession: str, | ||
| ) -> tuple[Assembly, Chromosome] | None: | ||
| """Given a GA4GH SequenceReference refget accession ID, get back its reference genome and chromosome name | ||
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| .. code-block:: pycon | ||
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| >>> from agct.assembly_registry import get_assembly_from_refget_id | ||
| >>> get_assembly_from_refget_id("SQ.pnAqCRBrTsUoBghSD1yp_jXWSmlbdh4g") | ||
| (<Assembly.HG38: 'hg38'>, <Chromosome.CHR2: 'chr2'>) | ||
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| Use for acquiring a converter instance and calling liftover on a referenced GA4GH | ||
| variation object. | ||
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| :param refget_accession: sequence reference (must start with `"SQ."`) | ||
| :return: a reference assembly and chromosome, if successful | ||
| :raise ValueError: if input appears to be in an invalid format for a refget accession ID | ||
| """ | ||
| if not re.match(_ERROR_PATTERN, refget_accession): | ||
| msg = f"refget accession ID must be in format 'SQ.ABCDEFGHIJKLMNOPQRSTUVWXYZ123456'; got {refget_accession}" | ||
| _logger.error(msg) | ||
| raise ValueError(msg) | ||
| return REFGET_ID_INFO.get(refget_accession) | ||
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| def get_refget_id_from_seqinfo( | ||
| assembly: Assembly, chromosome: Chromosome | ||
| ) -> str | None: | ||
| """Given an assembly/chromosome pairing, get a refget accession ID, if known | ||
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| :param assembly: reference assembly for sequence | ||
| :param chromosome: chromosome name | ||
| :return: a refget sequence accession ID, if known | ||
| """ | ||
| return REFGET_ID_LOOKUP.get((assembly, chromosome)) | ||
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We may consider renaming this to refget ac pattern (or something similar). Error pattern may be a little misleading