Maxwell A. Sherman

Mar 28, 2024 | nature.com | Robert E. Handsaker |Maxwell A. Sherman |Nolan Kamitaki |Alison R. Barton |Chikashi Terao

AbstractCopy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association studies. Here we ascertained protein-altering CNVs from UK Biobank whole-exome sequencing data (n = 468,570) using haplotype-informed methods capable of detecting subexonic CNVs and variation within segmental duplications.

Jun 9, 2023 | biorxiv.org | Robert E. Handsaker |Maxwell A. Sherman |Nolan Kamitaki |Alison R. Barton

Thank you for your interest in spreading the word about bioRxiv. NOTE: Your email address is requested solely to identify you as the sender of this article. Your Email * Your Name * Send To * Enter multiple addresses on separate lines or separate them with commas. Message Subject (Your Name) has forwarded a page to you from bioRxiv Message Body (Your Name) thought you would like to see this page from the bioRxiv website.