def test_multi_open2(self):
from idiva.io.vcf import ReadVCF
with ReadVCF.open(vcf_file) as vcf:
assert isinstance(vcf, ReadVCF)
a = list(map(str, vcf))
with ReadVCF.open(vcf) as vcf:
b = list(map(str, vcf))
self.assertListEqual(a, b)
def test_meta_accuracy(self):
from idiva.io.vcf import ReadVCF
with open(vcf_file, mode='r') as fd:
reference = {
"INFO": {
"NS": {"Number": 1, "Type": "Integer", "Description": '"Number of Samples With Data"'},
"DP": {"Number": 1, "Type": "Integer", "Description": '"Total Depth"'},
"AF": {"Number": None, "Type": "Float", "Description": '"Allele Frequency"'},
"AA": {"Number": 1, "Type": "String", "Description": '"Ancestral Allele"'},
"DB": {"Number": 0, "Type": "Flag", "Description": '"dbSNP membership, build 129"'},
"H2": {"Number": 0, "Type": "Flag", "Description": '"HapMap2 membership"'},
},
"FILTER": {
"q10": {"Description": '"Quality below 10"'},
"s50": {"Description": '"Less than 50% of samples have data"'},
},
"FORMAT": {
"GT": {"Number": 1, "Type": "String", "Description": '"Genotype"'},
"GQ": {"Number": 1, "Type": "Integer", "Description": '"Genotype Quality"'},
"DP": {"Number": 1, "Type": "Integer", "Description": '"Read Depth"'},
"HQ": {"Number": 2, "Type": "Integer", "Description": '"Haplotype Quality"'},
},
"fileformat": "VCFv4.0",
"fileDate": "20090805",
"source": "myImputationProgramV3.1",
"reference": "1000GenomesPilot-NCBI36",
"phasing": "partial",
}
self.assertDictEqual(ReadVCF(fd).meta, reference)
def test_open_read_vcf_meta(self):
from idiva.db import clinvar_open
from idiva.io import ReadVCF
with clinvar_open(which='vcf_37') as fd:
vcf = ReadVCF(fd)
assert not hasattr(vcf, "sample_ids")
print(vcf.header)
raise NotImplementedError
def test_howto(self):
from idiva.db import clinvar_open
from idiva.io.vcf import ReadVCF
with clinvar_open() as fd:
vcf = ReadVCF(fd)
vcf.meta
for dataline in vcf:
dataline
def samples_column(cls, fd):
from idiva.io.vcf import parse_gt
for dataline in ReadVCF(fd):
for gt in dataline.samples:
try:
(a, b) = parse_gt(gt)
except:
raise RuntimeError(F"Could not parse genotype: {gt}")
def test_dataline_types(self):
from idiva.io.vcf import ReadVCF, RawDataline
with ReadVCF.open(vcf_file) as vcf:
candidate = first(vcf)
self.assertIsInstance(candidate, RawDataline)
self.assertIsInstance(candidate.pos, int)
self.assertIsInstance(candidate.qual, float)
self.assertIsInstance(candidate.info, str)
def test_dataline_types(self):
from idiva.io.vcf import ReadVCF, RawDataline
with open(vcf_file, mode='r') as fd:
candidate = first(ReadVCF(fd))
self.assertIsInstance(candidate, RawDataline)
self.assertIsInstance(candidate.pos, int)
self.assertIsInstance(candidate.qual, float)
self.assertIsInstance(candidate.info, str)
def test_reads_all_lines(self):
for k in PATHS:
with open_maybe_gz(PATHS[k], mode='r') as fd:
vcf = ReadVCF(fd)
from idiva.utils import seek_then_rewind
with seek_then_rewind(fd, seek=None):
reference = len(fd.readlines())
with vcf.rewind_when_done:
candidate = len(list(vcf))
self.assertEqual(candidate, reference)
def test_count(self):
from idiva.io.vcf import ReadVCF, RawDataline
# ref_len_v1 = {'ctrl': 2329288, 'case': 2360972}
ref_len_v2 = {'ctrl': 2227080, 'case': 2258797}
for group in URLS:
with download(URLS[group]).now.open(mode='rb') as fd:
with open_maybe_gz(fd, mode='r') as fd:
assert isinstance(fd, io.TextIOBase)
nlines = sum(1 for __ in ReadVCF(fd))
# print(F"Group {group} has {nlines} datalines")
self.assertEqual(nlines, ref_len_v2[group])
def test_clinvar_df(self):
from idiva.db import clinvar_open
from idiva.io import ReadVCF
from idiva.db.clinvar import clinvar_to_df
with clinvar_open(which='vcf_37') as fd:
df = clinvar_to_df(ReadVCF(fd))
self.assertEqual(len(df), REF_LENGTHS['clinvar_df'])
self.assertTrue(all(
df.loc[df['CLNVC'] == 'single_nucleotide_variant']))
self.assertFalse(df['CLNVC'].isnull().values.any())
self.assertTrue('OMIM_id' in df.columns)
def test_length_clinvar(self):
from idiva.db import clinvar_open
from idiva.io import ReadVCF
from tqdm import tqdm
with clinvar_open(which='vcf_37') as fd:
vcf = ReadVCF(fd)
for idx, line in tqdm(enumerate(vcf.datalines),
postfix='reading clinvar file'):
pass
self.assertEqual(idx, REF_LENGTHS['clinvar_csv'])
def test_datalines_accuracy(self):
from idiva.io.vcf import ReadVCF
with open(vcf_file, mode='r') as fd:
reference = [
"20 14370 rs6054257 G A 29 PASS NS=3;DP=14;AF=0.5;DB;H2 GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:.,.",
"20 17330 None T A 3 q10 NS=3;DP=11;AF=0.017 GT:GQ:DP:HQ 0|0:49:3:58,50 0|1:3:5:65,3 0/0:41:3",
"20 1110696 rs6040355 A G,T 67 PASS NS=2;DP=10;AF=0.333,0.667;AA=T;DB GT:GQ:DP:HQ 1|2:21:6:23,27 2|1:2:0:18,2 2/2:35:4",
"20 1230237 None T None 47 PASS NS=3;DP=13;AA=T GT:GQ:DP:HQ 0|0:54:7:56,60 0|0:48:4:51,51 0/0:61:2",
"20 1234567 microsat1 GTCT G,GTACT 50 PASS NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/2:17:2 1/1:40:3",
]
candidate = list(map(str, ReadVCF(fd)))
self.assertListEqual(reference, candidate)
def test_rewinds(self):
from idiva.io.vcf import ReadVCF
with ReadVCF.open(vcf_file) as vcf:
assert isinstance(vcf, ReadVCF)
with vcf.rewind_when_done:
a = list(map(str, vcf))
with vcf.rewind_when_done:
b = list(map(str, vcf))
self.assertListEqual(a, b)
def ref_alt_columns(cls, fd):
vcf = ReadVCF(fd)
special = {F"<{k}>" for k in vcf.meta['ALT'].keys()}
for dataline in vcf:
ref = dataline.ref
alt = dataline.alt.split(',')
if is_genomic_string(ref):
# Cannot assume:
# assert all(is_genomic_string(a) for a in alt)
pass
else:
assert ref in special
assert all((a in special) for a in alt)
def maker():
from idiva.io.vcf import ReadVCF
with clinvar_open(which) as fd:
df = pd.DataFrame(data=(clinvar_datalines(ReadVCF(fd))))
df = df[["RS", "CLNSIG"]].rename(columns={
'RS': "ID",
'CLNSIG': "ClnSig"
})
df = df[df.ID.fillna('').str.contains(r"^rs[0-9]+$")]
df = df.groupby('ID', as_index=False)
df = df.agg({
'ClnSig':
lambda s: F'"{", ".join(sorted(set(map(str, s))))}"'
})
return df
def alt_column(cls, fd):
vcf = ReadVCF(fd)
TCGA = {"T", "C", "G", "A"}
special = {F"<{k}>" for k in vcf.meta['ALT'].keys()}
for dataline in vcf:
checks = [{
'single nt': alt in TCGA,
'multi nt': set(alt).issubset(TCGA),
'special': alt in special,
} for alt in dataline.alt.split(',')]
if not any(any(c.values()) for c in checks):
print(F"ALT = '{dataline.alt}' does not fit any known format.")
print(F"REF = '{dataline.ref}'.")
raise RuntimeError("Assumption on ALT column failed.")
def ref_column(cls, fd):
vcf = ReadVCF(fd)
TCGA = {"T", "C", "G", "A"}
special = {F"<{k}>" for k in vcf.meta['ALT'].keys()}
for dataline in vcf:
assert "," not in dataline.ref
checks = {
'single nt': dataline.ref in TCGA,
'multi nt': set(dataline.ref).issubset(TCGA),
'special': (dataline.ref in special),
}
if not any(checks.values()):
print(F"REF = '{dataline.ref}' does not fit any known format.")
print(F"ALT = '{dataline.alt}'.")
raise RuntimeError("Assumption on REF column failed.")
def create_dbSNP_df(dbSNP_file_path: Path,
out_base: Path,
which_chrom: typing.Union[int, str] = 17) -> None:
"""
Converts the dbSNP vcf file to a dataframe
"""
log.info(
f"Converting {dbSNP_file_path} to out_base / f'GRCh37_latest_dbSNP_all_chrom{which_chrom}.csv.gz"
)
out_path = out_base / f'GRCh37_latest_dbSNP_all_chrom{which_chrom}.csv.gz'
print(out_path)
assert out_base.exists()
with open(dbSNP_file_path, mode='r') as fd:
df = dbSNP_to_df(ReadVCF(fd),
which_chrom='NC' if which_chrom == '_all' else
f'NC_{str(which_chrom).zfill(6)}')
df.to_csv(out_path, index=False, compression="gzip")
if not len(df):
log.warning(f'created dataframe is empty for chrom {which_chrom}')
def test_open_read_vcf_datalines(self):
from idiva.db import clinvar_open
from idiva.io import ReadVCF
with clinvar_open(which='vcf_37') as fd:
vcf = ReadVCF(fd)
reference = [
"1 865568 846933 G A . . ALLELEID=824438;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000001.10:g.865568G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SAMD11:148398;MC=SO:0001583|missense_variant;ORIGIN=1",
"1 865583 972363 C T . . ALLELEID=959431;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000001.10:g.865583C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SAMD11:148398;MC=SO:0001583|missense_variant;ORIGIN=1",
"1 865628 789256 G A . . AF_ESP=0.00347;AF_EXAC=0.00622;AF_TGP=0.00280;ALLELEID=707587;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000001.10:g.865628G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SAMD11:148398;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41285790",
]
from idiva.io.vcf import RawDataline
datalines: typing.List[RawDataline]
datalines = list(at_most_n(vcf, n=len(reference)))
self.assertIsInstance(datalines[0], RawDataline)
candidate = list(map(str, datalines))
self.assertListEqual(reference, candidate)
self.assertEqual(datalines[0].ref, 'G')
self.assertEqual(datalines[1].ref, 'C')
self.assertEqual(datalines[2].ref, 'G')
def test_db_clf(self):
with ReadVCF.open(URLS['case']) as case:
result = phenomenet_classifier(case=case)
self.assertTrue(len(result.df))
def test_db_clf(self):
with ReadVCF.open(URLS['case']) as case:
result = db_classifier(case=case, ctrl=None)
self.assertTrue(len(result.df))
def test_sanity2(self):
from idiva.io.vcf import ReadVCF
with ReadVCF.open(vcf_file) as vcf:
with ReadVCF.open(vcf) as vcf:
list(vcf)
def test_sanity(self):
from idiva.io.vcf import ReadVCF
with open(vcf_file, mode='r') as fd:
ReadVCF(fd)
def id_is_unique(cls, fd):
import pandas as pd
ids = [dataline.id for dataline in ReadVCF(fd)]
assert pd.Series(ids).is_unique
def test_read_case(self):
with PATHS['case'].open(mode='r') as fd:
candidate = str(list(at_most_n(ReadVCF(fd), 10)).pop())
reference = "17 186 rs547289895 G A 100 PASS AC=1;AF=0.000199681;AN=5008;NS=2504;DP=18075;EAS_AF=0;AMR_AF=0;AFR_AF=0.0008;EUR_AF=0;SAS_AF=0;AA=.|||;VT=SNP GT 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0 0|0"
self.assertEqual(reference, candidate)
def test_phenom_basic(self):
with ReadVCF.open(URLS['case']) as case:
result = phenomenet_classifier_basic(case=case, ctrl=None)
self.assertTrue(len(result.df))
log.info('passed!')
def test_phenom_clf(self):
with ReadVCF.open(URLS['case']) as case, ReadVCF.open(
URLS['ctrl']) as ctrl:
result = phenomenet_classifier(case=case, ctrl=ctrl)
self.assertTrue(len(result.df))
log.info('passed!')
def format_is_gt(cls, fd):
for dataline in ReadVCF(fd):
assert (dataline.format == "GT")
