CrowdVariant: a crowdsourcing approach to curate copy number variants
Justin M. Zook, Marc L. Salit, Peyton Greenside, Ryan Poplin, Mark DePristo, Madeleine Cule
Copy number variants (CNVs) are an important type of genetic variation and play a causal role in many diseases. However, they are also notoriously difficult to identify accurately from next-generation sequencing (NGS) data. For larger CNVs, genotyping arrays provide reasonable benchmark data, but NGS allows us to assay a far larger number of small (
, Salit, M.
, Greenside, P.
, Poplin, R.
, DePristo, M.
and Cule, M.
CrowdVariant: a crowdsourcing approach to curate copy number variants, Pacific Symposium for Biocomputing, [online], https://tsapps.nist.gov/publication/get_pdf.cfm?pub_id=922436
(Accessed June 25, 2022)