broadinstitute / gatk-sv

A structural variation pipeline for short-read sequencing
BSD 3-Clause "New" or "Revised" License
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Add NonZeroReferenceLengthAlignmentReadFilter read filter to CollectSVEvidence #686

Closed mwalker174 closed 4 months ago

mwalker174 commented 4 months ago

Addresses a known bug in CollectSVEvidence when encountering an alignment consisting of a single insertion, i.e. a 151I cigar. This causes the CollectSVEvidence GATK tool to throw an error:

java.lang.IllegalArgumentException: Invalid interval. Contig:chr2 start:644282 end:644281

A workaround is to enable GATK's NonZeroReferenceLengthAlignmentReadFilter.

Tested on 5 samples from the 1KGP reference panel and confirmed bit-wise parity on all (decompressed) outputs.