Population-scale Long-read Sequencing in the <i>All of Us</i> Research Program.

ABSTRACT: The All of Us Research Program (AoU) is a national biobank seeking to enroll one million individuals in the United States to link genomic and biomedical data, including short- and long-read whole-genome sequencing (srWGS/LRS), with rich electronic health record (EHR) information. Here, we present the first large-scale analyses of long-read sequencing (LRS) in AoU and offer a new framework for deriving genomic insights into complex structural variation (SV) of relevance to human health and disease. We performed joint analyses of 1,027 individuals self-identifying as Black or African American, sequenced to ~8x coverage with Pacific Biosciences HiFi technology and processed using cloud-native pipelines. From these LRS data we constructed a comprehensive variant callset encompassing kno

SUBMITTER: Garimella KV 

PROVIDER: S-EPMC12622093 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature