Comments (1)
For those specific examples, I would recommend pre-processing the variants to turn them into resolved variants. A <DEL>
could be filled in by setting the REF to reference[entry.start:entry.end]
and alt the first base of that sequence. An <INV>
essentially the same thing for REF but with the reverse complement in the alt. I've also resolved <DUP>
to simply be an insertion of the duplicated range.
Plus, once that's done, you can turn on sequence similarity, which is an important measure for accurately comparing SVs.
An example script for resolving SVs in a VCF is below.
resolve.py
"""
Given a VCF, fill in the <DEL>, <INV>, <DUP> ALT sequence
"""
import sys
import pysam
import truvari
MAX_SV = 100_000_000 # Filter things smaller than this
RC = str.maketrans("ATCG", "TAGC")
def do_rc(s):
"""
Reverse complement a sequence
"""
return s.translate(RC)[::-1]
def resolve(entry, ref):
"""
"""
if entry.start > ref.get_reference_length(entry.chrom):
return entry
if entry.alts[0] in ['<CNV>', '<INS>']:
return entry
seq = ref.fetch(entry.chrom, entry.start, entry.stop)
if entry.alts[0] == '<DEL>':
entry.ref = seq
entry.alts = [seq[0]]
elif entry.alts[0] == '<INV>':
entry.ref = seq
entry.alts = [do_rc(seq)]
elif entry.alts[0] == '<DUP>':
entry.info['SVTYPE'] = 'INS'
entry.ref = seq[0]
entry.alts = [seq]
entry.stop = entry.start + 1
return entry
if __name__ == '__main__':
vcf = pysam.VariantFile(sys.argv[1])
ref = pysam.FastaFile(sys.argv[2])
n_header = vcf.header.copy()
out = pysam.VariantFile("/dev/stdout", 'w', header=n_header)
for entry in vcf:
if truvari.entry_size(entry) >= MAX_SV:
continue
if entry.alts[0].startswith("<"):
entry = resolve(entry, ref)
try:
out.write(entry)
except Exception:
sys.stderr.write(f"{entry}\n{type(entry)}\n")
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Related Issues (20)
- Question: Does truvari have a upper limit on the file size? How to speed up? HOT 2
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