diff --git a/svreader/annotation.py b/svreader/annotation.py
index dffa9c8ea66d0baf99c9c39eb49dfd75a943033a..3b3fac6c1e19ef364fcb10d6f85f3c9750f57e41 100644
--- a/svreader/annotation.py
+++ b/svreader/annotation.py
@@ -8,18 +8,31 @@ from math import isnan
from pysam import VariantFile
from svrunner_utils import eprint, warn, vcf_to_pybed
-from svreader.vcfwrapper import VCFRecord, SVReader, SVWriter
+from svreader.vcfwrapper import VCFRecord, VCFReader, VCFWriter
HOM_REF = (0, 0)
HET_VAR = (0, 1)
HOM_VAR = (1, 1)
+VALID_GENOTYPES = [HOM_REF, HET_VAR, HOM_VAR]
+
SVTYPER_GENO_LIKELI_TAG = "GL"
GENOMESTRIP_GENO_LIKELI_TAG = "GP"
Geno_likeli_tag = SVTYPER_GENO_LIKELI_TAG
+def coded_geno(geno):
+ if geno == HOM_REF:
+ return "HOMO_REF"
+ elif geno == HET_VAR:
+ return "HET_VAR"
+ elif geno == HOM_VAR:
+ return "HOMO_VAR"
+ else:
+ return "UNDEF"
+
+
def Variant(sample):
if sample.get('GT') in [HET_VAR, HOM_VAR]:
return True
@@ -27,7 +40,7 @@ def Variant(sample):
return False
-class VariantRecord(VCFRecord):
+class AnnotateRecord(VCFRecord):
"""
A lightweight object to annotated the final records
"""
@@ -35,7 +48,8 @@ class VariantRecord(VCFRecord):
"""
A pysam VariantRecord wrapper
"""
- super(VariantRecord, self).__init__(record)
+ super(AnnotateRecord, self).__init__(record)
+ self.new_id = None
@property
def start(self):
@@ -60,13 +74,20 @@ class VariantRecord(VCFRecord):
else:
return False
+ @property
+ def num_samples(self):
+ return len(self.record.samples.keys())
+
def setNewId(self, identifier):
+ self.new_id = identifier
+
+ def rename(self):
try:
self.record.info['SOURCEID'] = self.id
except KeyError:
eprint("SOURCEID absent from record info keys,")
sys.exit(1)
- self.id = identifier
+ self.id = self.new_id
def num_variant_samples(self):
return sum([Variant(s) for s in self.samples.values()])
@@ -78,11 +99,24 @@ class VariantRecord(VCFRecord):
return sum([s.get('SQ') for s in self.samples.values()])
def GQ_sum_score(self):
- return sum([s.get('SQ') for s in self.samples.values()])
+ return sum([s.get('GQ') for s in self.samples.values()])
+
+ def maxGQ(self):
+ return max([s.get('GQ') for s in self.samples.values()])
def setQual(self):
self.record.qual = self.qual()
+ def numdiffGenotypes(self):
+ genotypes = defaultdict()
+ for s in self.samples.values():
+ if s.get('GT') in VALID_GENOTYPES:
+ genotypes[coded_geno(s.get('GT'))] = 1
+ return len(genotypes.keys())
+
+ def Polymorph(self):
+ return self.numdiffGenotypes() > 1
+
def AddSupportInfos(self):
supp_reads = self.variant_read_support()
num_supp_samples = self.num_variant_samples()
@@ -93,6 +127,14 @@ class VariantRecord(VCFRecord):
eprint("SUPP_READS or NUM_SUPP_SAMPLES absent from record info keys")
sys.exit(1)
+ def CallRate(self, cutoff):
+ num_qual_call = sum([(s.get('GQ') > cutoff) for s in self.samples.values()])
+ return num_qual_call/self.num_samples
+
+ def VariantCallRate(self, cutoff):
+ num_qual_call = sum([(s.get('GQ') > cutoff) for s in self.samples.values() if Variant(s)])
+ return num_qual_call/self.num_variant_samples()
+
def UnifiedPass(self):
"""
All records passing the filters (PASS, .) ar now labelled PASS
@@ -106,51 +148,14 @@ class VariantRecord(VCFRecord):
record.filter.add("PASS")
-class VariantRecordSample(object):
- """
- A lightweight object to VariantRecordSample
- """
- def __init__(self, variantsample):
- self.variantsample = variantsample
-
- def genotype(self):
- return self.variantsample.get('GT')
-
- def SQ_score(self):
- # Phred-scaled probability that this site is variant
- # (non-reference in this sample)
- return self.variantsample.get('SQ')
-
- def GQ_score(self):
- # Genotype quality
- return self.variantsample.get('GQ')
-
- def GL_score(self):
- # Genotype Likelihood, log10-scaled likelihoods of the data given the
- # called genotype for each possible genotype generated from the
- # reference and alternate alleles given the sample ploidy
- return self.variantsample.get('GL')
-
- def AltSupport(self):
- return self.variantsample.get('AO')[0]
-
- @property
- def isVariant(self):
- if self.genotype() in [HET_VAR, HOM_VAR]:
- return True
- else:
- return False
-
-
-class VCFReader(SVReader):
-
+class AnnotateReader(VCFReader):
def __init__(self, file_name, sv_to_report=None):
- super(VCFReader, self).__init__(file_name)
+ super(AnnotateReader, self).__init__(file_name)
self.filename = file_name
self.sv_to_report = sv_to_report
self.vcf_reader = VariantFile(file_name)
- self.add_metadata()
+ self.add_annotation_metadata()
def __iter__(self):
return self
@@ -158,25 +163,25 @@ class VCFReader(SVReader):
def __next__(self):
while True:
raw_record = next(self.vcf_reader)
- record = VariantRecord(raw_record)
+ record = AnnotateRecord(raw_record)
return record
def getHeader(self):
return self.vcf_reader.header
- def addInfo(self, name, number, type, description):
- self.vcf_reader.header.info.add(id=name,
- number=number,
- type=type,
- description=description)
-
- def addFilter(self, name, description):
- self.vcf_reader.header.filters.add(id=name,
- number=None,
- type=None,
- description=description)
-
- def add_metadata(self):
+ # def addInfo(self, name, number, type, description):
+ # self.vcf_reader.header.info.add(id=name,
+ # number=number,
+ # type=type,
+ # description=description)
+ #
+ # def addFilter(self, name, description):
+ # self.vcf_reader.header.filters.add(id=name,
+ # number=None,
+ # type=None,
+ # description=description)
+
+ def add_annotation_metadata(self):
self.addInfo("SOURCEID", 1, "String",
"The source sv identifier")
self.addInfo("MAX_SUPP_READS", 1, "Integer",
@@ -195,7 +200,7 @@ class VCFReader(SVReader):
return len(self.vcf_reader.header.samples)
-class VCFWriter(SVWriter):
+class AnnotateWriter(VCFWriter):
def __init__(self, file_name, template_reader, index=True):
@@ -365,9 +370,12 @@ def add_redundancy_infos_header(reader):
# Adding DUPLICATES info (equivalent to GSDUPLICATEOVERLAP)
reader.addInfo("DUPLICATEOVERLAP", 1, "Float",
"Highest overlap with a duplicate event")
- # Adding DUPLICATEOVERLAP info (equivalent to GSDUPLICATEOVERLAP)
- reader.addInfo("DUPLICATES", ".", "String",
+ # Adding DUPLICATEOF info (list of variant prefered to this one)
+ reader.addInfo("DUPLICATEOF", ".", "String",
"List of duplicate events preferred to this one")
+ # Adding DUPLICATES info (list of variants duplicates of this one)
+ reader.addInfo("DUPLICATES", ".", "String",
+ "List of duplicate events represented by the current sv")
# Adding NONDUPLICATEOVERLAP
reader.addInfo("NONDUPLICATEOVERLAP", 1, "Float",
"Amount of overlap with a non-duplicate")
@@ -396,7 +404,6 @@ def GenomeSTRIPLikeRedundancyAnnotator(SVSet, reader,
overlapping = defaultdict(tuple)
reference = defaultdict()
for o in self_overlap:
- print("Here ?", o)
if o[3] == o[7]:
continue
a, b = ordered(o[3], o[7])
@@ -413,7 +420,7 @@ def GenomeSTRIPLikeRedundancyAnnotator(SVSet, reader,
reference[ref] = 1
overlap_size = int(o[-1])
overlap = getoverlap(dupli, overlap_size)
- if maxGQ(ref) > 0 and passed(dupli):
+ if ref.maxGQ() > 0 and dupli.passed:
# are dismissed
# - reference variant with 0 genotype quality for all markers
# - duplicate that are already tagged as filtered out
@@ -445,7 +452,7 @@ def add_duplicate_info_sv(sv, duplicateoverlap, duplicatescore, duplicates):
else:
sv.record.info['DUPLICATESCORE'] = duplicatescore
sv.record.info['DUPLICATEOVERLAP'] = duplicateoverlap
- sv.record.info['DUPLICATES'] = duplicates
+ sv.record.info['DUPLICATEOF'] = duplicates
def add_overlap_info_sv(sv, overlap, duplicatescore):
@@ -459,10 +466,20 @@ def add_overlap_info_sv(sv, overlap, duplicatescore):
sv.record.info['NONDUPLICATEOVERLAP'] = overlap
+def add_callrate_infos_header(reader):
+ # Adding CALLRATE info
+ reader.addInfo("CALLRATE", 1, "Float",
+ "Percentage of samples called with a GQ>13")
+ # Adding VARIANTCALLRATE info
+ reader.addInfo("VARIANTCALLRATE", 1, "Float",
+ "Percentage of variant samples called with a GQ>13")
+
+
def add_filter_infos_header(reader):
# FILTERS
# Adding specific filters
reader.addFilter("CALLRATE", "Call rate <0.75")
+ reader.addFilter("VARIANTCALLRATE", "Variant Call rate <0.75")
reader.addFilter("MONOMORPH", "All samples have the same genotype")
reader.addFilter("DUPLICATE", "GSDUPLICATESCORE>0")
reader.addFilter("OVERLAP", "NONDUPLICATEOVERLAP>0.7")
@@ -479,13 +496,16 @@ def GenomeSTRIPLikefiltering(SVSet, reader):
(use NONVARIANTSCORE in both cases)
"""
+ add_callrate_infos_header(reader)
add_filter_infos_header(reader)
for sv in SVSet:
info = sv.record.info
- if callRate(sv) < 0.75:
+ sv.record.info['CALLRATE'] = sv.CallRate(13)
+ sv.record.info['VARIANTCALLRATE'] = sv.VariantCallRate(13)
+ if sv.CallRate(13) < 0.75:
sv.filter.add("CALLRATE")
- if not Polymorph(sv):
+ if not sv.Polymorph():
sv.filter.add("MONOMORPH")
if 'NONDUPLICATEOVERLAP' in info and info['NONDUPLICATEOVERLAP'] > 0.7:
sv.filter.add("OVERLAP")
diff --git a/svreader/vcfwrapper.py b/svreader/vcfwrapper.py
index 7c3bd7346f461e9a1694876ffc21db2312ca3eb6..605830db0911b5bdd21f89b6ab0af3f890985941 100644
--- a/svreader/vcfwrapper.py
+++ b/svreader/vcfwrapper.py
@@ -39,6 +39,10 @@ class VCFRecord(SVRecord):
def id(self):
return self.record.id
+ @id.setter
+ def id(self, id):
+ self.record.id = id
+
@property
def pos(self):
return self.record.pos
@@ -51,6 +55,10 @@ class VCFRecord(SVRecord):
def stop(self):
return self.record.stop
+ @property
+ def svtype(self):
+ return self._sv_type
+
@property
def filter(self):
return self.record.filter
@@ -84,16 +92,24 @@ class VCFReader(SVReader):
self.vcf_reader.header.info.remove_header(key)
def addInfo(self, name, number, type, description):
- self.vcf_reader.header.info.add(id=name,
- number=number,
- type=type,
- description=description)
+ # we add info only if absent from the current header
+ if name in self.vcf_reader.header.info:
+ return
+ else:
+ self.vcf_reader.header.info.add(id=name,
+ number=number,
+ type=type,
+ description=description)
def addFilter(self, name, description):
- self.vcf_reader.header.filters.add(id=name,
- number=None,
- type=None,
- description=description)
+ # we add filter info only if absent from the current header
+ if name in self.vcf_reader.header.filters:
+ return
+ else:
+ self.vcf_reader.header.filters.add(id=name,
+ number=None,
+ type=None,
+ description=description)
def getOrderedSamples(self):
samples = self.vcf_reader.header.samples