Alison R. Barton

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.

Jul 31, 2023 | cell.com | Byrska-Bishop M |Robert E. Handsaker |Alison R. Barton |Steven A. McCarroll

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

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