Hugo Gabriel Eyherabide

Results 2 issues of Hugo Gabriel Eyherabide

#290 fixed #189 which requested the definition of the SB INFO field based on the observation that GATK defines SB as Number=4,Type=Integer (https://github.com/samtools/hts-specs/issues/189#issue-209808608). However, that definition is for the SB...

vcf

I've found that, for chromosome 1 in the 1000 Genomes Phase 3 Version 5 reference panel, the VCF contains two entries for 15274725:T:\ and 227955266:TTG:T, and for each variant, their...