UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

A crowdsourced set of curated structural variants for the human genome

Chapman, LM; Spies, N; Pai, P; Lim, CS; Carroll, A; Narzisi, G; Watson, CM; ... Zook, JM; + view all (2020) A crowdsourced set of curated structural variants for the human genome. PLoS Computational Biology , 16 (6) , Article e1007933. 10.1371/journal.pcbi.1007933. (In press). Green open access

[thumbnail of journal.pcbi.1007933.pdf]
Preview
Text
journal.pcbi.1007933.pdf - Published Version

Download (4MB) | Preview

Abstract

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 callers or train machine learning models. We developed a crowdsourcing app—SVCurator—to help GIAB curators manually review large indels and SVs within the human genome, and report their genotype and size accuracy. SVCurator displays images from short, long, and linked read sequencing data from the GIAB Ashkenazi Jewish Trio son [NIST RM 8391/HG002]. We asked curators to assign labels describing SV type (deletion or insertion), size accuracy, and genotype for 1235 putative insertions and deletions sampled from different size bins between 20 and 892,149 bp. ‘Expert’ curators were 93% concordant with each other, and 37 of the 61 curators had at least 78% concordance with a set of ‘expert’ curators. The curators were least concordant for complex SVs and SVs that had inaccurate breakpoints or size predictions. After filtering events with low concordance among curators, we produced high confidence labels for 935 events. The SVCurator crowdsourced labels were 94.5% concordant with the heuristic-based draft benchmark SV callset from GIAB. We found that curators can successfully evaluate putative SVs when given evidence from multiple sequencing technologies.

Type: Article
Title: A crowdsourced set of curated structural variants for the human genome
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1371/journal.pcbi.1007933
Publisher version: https://doi.org/10.1371/journal.pcbi.1007933
Language: English
Additional information: This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication (https://creativecommons.org/publicdomain/zero/1.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: https://discovery.ucl.ac.uk/id/eprint/10102300
Downloads since deposit
40Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item