Publications by Patrick Pai

Publications by authors named "Patrick Pai"

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

Lesley M Chapman Noah Spies Patrick Pai Chun Shen Lim Andrew Carroll

PLoS Comput Biol

June 2020

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.

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