Article
Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism.
Cell genomics - 13 May 2026
Mortazavi Milad, Guevara James, Diaz Joshua, Tran Stephen, Ziaei Jam Helyaneh, Reeves Chloe, Batalov Sergey, Jepsen Kristen, Bainbridge Matthew, Besterman Aaron D, Gymrek Melissa, Palmer Abraham A, Sebat Jonathan
Abstract excerpt
Long-read whole-genome sequencing (LR-WGS) technologies enhance the discovery of structural variants (SVs) and tandem repeats (TRs). We performed LR-WGS on 267 individuals from 63 autism spectrum disorder (ASD) families and generated an integrated call set combining long- and short-read data. LR-WGS increased detection of gene-disrupting SVs and TRs by 33% and 38%, respectively, and enabled identification of...
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