Xinchang Zheng

Oct 1, 2024 | biorxiv.org | Xinchang Zheng |Murad Chowdhury |Aaron Clauset |Behzod Mirpochoev

AbstractThe prioritization of Structural Variants (SV), which is needed to rank and identify potential pathogenic alleles, is still in its infancy. This is exemplified over gnomAD only being able to annotate 33.5% of GIAB SVs. To overcome this, we present the first long-read based annotation resource for both GRCh38 and CHM13-T2T reference using STIX.