Article

SVCurator: A Crowdsourcing app to visualize evidence of structural variants for the human genome

2019-03-25

Abstract excerpt

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 yet to be defined. 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 crowdsour...

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Literature Corpus work: 32796e4d-f01a-53d2-a304-b77f1a03259a
DOI: 10.1101/581264

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