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 July 3, 2025)
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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
Issues
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Created January 6, 2019, Updated January 27, 2020