diff --git a/svreader/annotation.py b/svreader/annotation.py
index 3b3fac6c1e19ef364fcb10d6f85f3c9750f57e41..11c2b9855d973ca60e8159a1a7e85a431ae0fc34 100644
--- a/svreader/annotation.py
+++ b/svreader/annotation.py
@@ -2,6 +2,8 @@
import sys
from collections import defaultdict
+from networkx import Graph, connected_components
+
import numpy as np
from math import isnan
@@ -40,6 +42,13 @@ def Variant(sample):
return False
+def Heterozygote(sample):
+ if sample.get('GT') in [HET_VAR]:
+ return True
+ else:
+ return False
+
+
class AnnotateRecord(VCFRecord):
"""
A lightweight object to annotated the final records
@@ -78,8 +87,8 @@ class AnnotateRecord(VCFRecord):
def num_samples(self):
return len(self.record.samples.keys())
- def setNewId(self, identifier):
- self.new_id = identifier
+ def setNewId(self, new_id):
+ self.new_id = new_id
def rename(self):
try:
@@ -93,16 +102,31 @@ class AnnotateRecord(VCFRecord):
return sum([Variant(s) for s in self.samples.values()])
def variant_read_support(self):
- return max([s.get('AO')[0] for s in self.samples.values()])
+ support = []
+ for s in self.samples.values():
+ if s.get('AO') is not None:
+ support.append(s.get('AO')[0])
+ return max(support)
def qual(self):
- return sum([s.get('SQ') for s in self.samples.values()])
+ variant_qual = []
+ for s in self.samples.values():
+ if s.get('SQ') is not None:
+ variant_qual.append(s.get('SQ'))
+ return sum(variant_qual)
+
+ def GQ_samples(self):
+ genotype_qual = []
+ for s in self.samples.values():
+ if s.get('GQ') is not None:
+ genotype_qual.append(s.get('GQ'))
+ return genotype_qual
def GQ_sum_score(self):
- return sum([s.get('GQ') for s in self.samples.values()])
+ return sum(self.GQ_samples())
def maxGQ(self):
- return max([s.get('GQ') for s in self.samples.values()])
+ return max(self.GQ_samples())
def setQual(self):
self.record.qual = self.qual()
@@ -128,12 +152,22 @@ class AnnotateRecord(VCFRecord):
sys.exit(1)
def CallRate(self, cutoff):
- num_qual_call = sum([(s.get('GQ') > cutoff) for s in self.samples.values()])
+ call_qual = []
+ for s in self.samples.values():
+ if s.get('GQ') is not None:
+ call_qual.append(s.get('GQ'))
+ num_qual_call = sum([(qual > cutoff) for qual in call_qual])
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()
+ samples = self.samples.values()
+ num_qual_var = 0
+ for s in samples:
+ if s.get("GQ") is not None and s.get("GQ") > cutoff and Variant(s):
+ num_qual_var += 1
+ num_var_samples = self.num_variant_samples()
+ var_call_rate = num_qual_var/num_var_samples if num_var_samples else 0
+ return var_call_rate
def UnifiedPass(self):
"""
@@ -379,6 +413,9 @@ def add_redundancy_infos_header(reader):
# Adding NONDUPLICATEOVERLAP
reader.addInfo("NONDUPLICATEOVERLAP", 1, "Float",
"Amount of overlap with a non-duplicate")
+ # Adding TOOLSUPPORT
+ reader.addInfo("TOOLSUPPORT", ".", "String",
+ "Tools supporting (detecting) the sv")
def GenomeSTRIPLikeRedundancyAnnotator(SVSet, reader,
@@ -483,6 +520,7 @@ def add_filter_infos_header(reader):
reader.addFilter("MONOMORPH", "All samples have the same genotype")
reader.addFilter("DUPLICATE", "GSDUPLICATESCORE>0")
reader.addFilter("OVERLAP", "NONDUPLICATEOVERLAP>0.7")
+ reader.addFilter("ABFREQ", "AB frequency <0.3 for >50% heterosamples")
def GenomeSTRIPLikefiltering(SVSet, reader):
@@ -511,3 +549,107 @@ def GenomeSTRIPLikefiltering(SVSet, reader):
sv.filter.add("OVERLAP")
if "DUPLICATESCORE" in info is not None and info['DUPLICATESCORE'] > -2:
sv.filter.add("DUPLICATE")
+
+
+def ABFreqFiltering(SVSet):
+ """ Filtering the candidate CNVs according to the following criteria
+ - more than 50% of variant samples should have AB freq > 0.3
+ """
+
+ for sv in SVSet:
+ ABfreqOK = []
+ for s in sv.record.samples.values():
+ if Heterozygote(s):
+ ABfreqOK.append((s.get('AB')[0] > 0.3))
+ if len(ABfreqOK) > 0 and sum(ABfreqOK) < len(ABfreqOK)/2:
+ sv.filter.add("ABFREQ")
+
+
+def GetConnectedDuplicates(SVSet):
+ """
+ Construct connected components of duplicates and rename the variants
+ """
+ undirected = Graph()
+ variant_dict = defaultdict()
+ representatives = defaultdict()
+ for s in SVSet:
+ variant_dict[s.id] = s
+ if "DUPLICATE" in s.filter:
+ for dupli_repr in s.record.info["DUPLICATEOF"]:
+ undirected.add_edge(s.id, dupli_repr)
+ for component in connected_components(undirected):
+ for c in component:
+ if "DUPLICATEOF" in variant_dict[c].record.info:
+ # the current variant is a duplicate
+ continue
+ rep = c # the representative of the equivalence class
+ break
+ duplicates = component
+ duplicates.remove(rep)
+ representatives[rep] = duplicates
+ add_duplicate_infos(representatives, variant_dict)
+
+
+def add_duplicate_infos(representatives, sv_dict):
+ for rep, elements in representatives.items():
+ for d in elements:
+ sv_dict[d].record.info['DUPLICATEOF'] = rep
+ duplicates = list(elements)
+ if 'DUPLICATES' in sv_dict[rep].record.info:
+ print(sv_dict[rep].record.info['DUPLICATES'])
+ duplicates.extend(sv_dict[rep].record.info['DUPLICATES'])
+ if len(duplicates) > 0:
+ sv_dict[rep].record.info['DUPLICATES'] = duplicates
+
+
+def get_tool_name(sv_ident):
+ return sv_ident.split("_")[0]
+
+
+def SetSupportingTools(SVSet):
+ for sv in SVSet:
+ tools = {get_tool_name(sv.id)}
+ if "DUPLICATES" in sv.record.info:
+ duplicates = sv.record.info['DUPLICATES']
+ # print(duplicates)
+ for dupli in duplicates:
+ tools.add(get_tool_name(dupli))
+ if 'TOOLSUPPORT' in sv.record.info:
+ supporting = set(sv.record.info['TOOLSUPPORT'])
+ tools.union(supporting)
+ sv.record.info['TOOLSUPPORT'] = list(tools)
+
+
+def static_vars(**kwargs):
+ def decorate(func):
+ for k in kwargs:
+ setattr(func, k, kwargs[k])
+ return func
+ return decorate
+
+
+@static_vars(counter=0)
+def new_id_str(sv):
+ new_id_str.counter += 1
+ return "_".join(["cnvpipeline", sv.chrom, sv.svtype,
+ str(new_id_str.counter)])
+
+
+def rename_info_field(sv, key, sv_dict):
+ if key in sv.record.info:
+ info_oldid = sv.record.info[key]
+ info_newid = [sv_dict[id] for id in info_oldid]
+ sv.record.info[key] = info_newid
+
+
+def RenameSV(SVSet):
+ sv_dict = defaultdict()
+ for sv in SVSet:
+ new_id = new_id_str(sv)
+ sv.setNewId(new_id)
+ sv_dict[sv.id] = new_id
+ for sv in SVSet:
+ rename_info_field(sv, "DUPLICATEOF", sv_dict)
+ rename_info_field(sv, "DUPLICATES", sv_dict)
+ sv.record.info['SOURCEID'] = sv.id
+ sv.rename()