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Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods

A high-confidence, comprehensive human variant set is critical in assessing accuracy of sequencing algorithms, which are crucial in precision medicine based on high-throughput sequencing. Although recent works have attempted to provide such a resource, they still do not encompass all major types of...

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Bibliographic Details
Published in:Sci Rep
Main Authors: Mu, John C., Tootoonchi Afshar, Pegah, Mohiyuddin, Marghoob, Chen, Xi, Li, Jian, Bani Asadi, Narges, Gerstein, Mark B., Wong, Wing H., Lam, Hugo Y. K.
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4585973/
https://ncbi.nlm.nih.gov/pubmed/26412485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep14493
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