A draft human pangenome reference
Wen‐Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, Shuangjia Lu, Julian Lucas, Jean Monlong, Haley Abel, Erik Garrison, Tobias Marschall, Ira M. Hall, Heng Li, Benedict Paten
Abstract
Brief summary: The Human Pangenome Reference Consortium reports a first draft of the human pangenome reference due to replace the existing reference GRCh38 (1, 2). It is an updated, high-quality, graph-based, telomere-to-telomere representation of global genomic diversity including common variants (single-nucleotide variants, structural variants and functional elements).
Topics & Concepts
Political scienceAnimal testing and alternatives