eldariont / svim-asm

Structural Variant Identification Method using Genome Assemblies
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How to interpret when Tandem duplications are filtered "not_fully_covered"? #24

Open cherryCookies opened 1 year ago

cherryCookies commented 1 year ago

Hello,

After running svim-asm haploid, I found some of tandem duplications were filtered "not_fully_covered". To understand their duplication pattern, I figured every alignments overlapping with those duplication; but the duplication pattern were not obvious. (I have attached a illustration of a "not_fullly_covered" duplication with corresponding alignments) What exactly does it mean by "'not_fully_covered" besides the description in variant.vcf, "Tandem duplication is not fully covered by a contig"? Moreover, is there any way to get SV coordinates from query, too?

duplication not fully covered.pptx

Kind regards Charyeong from Konkuk University, Seoul