O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
Year: 2024
Type: article
Abstract: Structural variants (SVs) are an important class of variation that contribute to the diversity of each human genome and a major component of the genetic architecture of human traits and disease. Unfortunately, the field of human genetics has lacked accessible maps of SVs at comparable scale and diversity to those routinely used for clinical screening of point mutations. In the Genome Aggregation Database (gnomAD), we describe an SV atlas comprised of ∼1.2 million SVs generated from 464,297 samples with exome sequencing (ES) and 63,046 individuals with genome sequencing (GS).
Source: Genetics in Medicine Open
Authors: Harrison Brand, Xuefang Zhao, Jack Fu, Ryan Collins, Isaac Wong, Cal Liao, Lily Wang, Samantha Baxter, Matthew Solomonson, Philip Darnowsky, Sinéad Chapman, Christine Stevens, Caroline Cusick, Alba Sanchis-Juan, Mark Walker, Nehir Kurtas, Katherine Chao, Stacey Gabriel, Eric Banks, Anne O’Donnell-Luria, Daniel MacArthur, Heidi Rehm, Benjamin Neale, Mark Daly, Kaitlin Samocha, Konrad Karczewski, Michael Talkowski
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392616550