Zook, J.
, Salit, M.
, Greenside, P.
, Poplin, R.
, DePristo, M.
and Cule, M.
(2019),
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 January 28, 2023)
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CrowdVariant: a crowdsourcing approach to curate copy number variants
Published
Author(s)
, , Peyton Greenside, Ryan Poplin, Mark DePristo, Madeleine Cule
Abstract
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 (Citation
Pacific Symposium for Biocomputing
Volume
24
Pub Type
Journals
Download Paper
Keywords
genomics, DNA sequencing, crowd sourcing, structural variants
Citation
Created January 6, 2019, Updated January 27, 2020