A crowdsourced set of curated structural variants for the human genome.

A crowdsourced set of curated structural variants for the human genome.

A high quality benchmark for small variants encompassing 88 to 90% of the reference genome has been developed for seven Genome in a Bottle (GIAB) reference samples. However a reliable benchmark for large indels and structural variants (SVs) is more challenging. In this study, we manually curated 123...

Full description

Bibliographic Details
Main Authors: Lesley M Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher M Watson, Christos Proukakis, Wayne E Clarke, Naoki Nariai, Eric Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza E Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M Wenger, Marc Salit, Justin M Zook
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-06-01
Series:PLoS Computational Biology
Online Access:https://doi.org/10.1371/journal.pcbi.1007933

Internet

https://doi.org/10.1371/journal.pcbi.1007933

Similar Items