P304: Using short-reads alignments to a pan-genome graph to call variants in challenging medically relevant genes in the Million Veteran Program

Genetics in Medicine Open 2026 Open access

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Authors: Iskander Said, Yunling Shi, Anuradha Mittal, Weizhong Li, Lina Zheng, Nalvi D. Duro, Poornima Devineni, Nick Khazanov, Jeremy Gollub, Saiju Pyarajan
DOI: 10.1016/j.gimo.2026.103798
Cited by: 0

Abstract

Short-read alignments to linear reference genomes are largely inadequate at capturing the genetic diversity present in human populations because reads with sufficient genetic divergence to the linear reference will be constrained by the linear reference and will also have limited quality mapping.

Fields of Study & Subjects

Genomics and Phylogenetic Studies Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103798–103798
Publication date
1 January 2026
Language
EN