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...

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Detalles Bibliográficos
Autores principales: 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, Zook, Justin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329145/
https://www.ncbi.nlm.nih.gov/pubmed/32559231
http://dx.doi.org/10.1371/journal.pcbi.1007933

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