A crowdsourced set of curated structural variants for the human genome
A crowdsourced set of curated structural variants for the human genome
About this item
Full title
Author / Creator
Chapman, Lesley M , Spies, Noah , Pai, Patrick , Lim, Chun Shen , Carroll, Andrew , Narzisi, Giuseppe , Watson, Christopher M , Proukakis, Christos , Clarke, Wayne E , Nariai, Naoki , Dawson, Eric , Jones, Garan , Blankenberg, Daniel , Brueffer, Christian , Xiao, Chunlin , Kolora, Sree Rohit Raj , Alexander, Noah , Wolujewicz, Paul , Ahmed, Azza E , Smith, Graeme , Shehreen, Saadlee , Wenger, Aaron M , Salit, Marc and Zook, Justin M
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
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 1235 SVs, which can ultimately be used to evaluate SV...
Alternative Titles
Full title
A crowdsourced set of curated structural variants for the human genome
Authors, Artists and Contributors
Author / Creator
Spies, Noah
Pai, Patrick
Lim, Chun Shen
Carroll, Andrew
Narzisi, Giuseppe
Watson, Christopher M
Proukakis, Christos
Clarke, Wayne E
Nariai, Naoki
Dawson, Eric
Jones, Garan
Blankenberg, Daniel
Brueffer, Christian
Xiao, Chunlin
Kolora, Sree Rohit Raj
Alexander, Noah
Wolujewicz, Paul
Ahmed, Azza E
Smith, Graeme
Shehreen, Saadlee
Wenger, Aaron M
Salit, Marc
Zook, Justin M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2424469108
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2424469108
Other Identifiers
ISSN
1553-7358,1553-734X
E-ISSN
1553-7358
DOI
10.1371/journal.pcbi.1007933
