Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

The sequence and assembly of human genomes using long-read sequencing technologies has revolutionized our understanding of structural variation and genome organization. We compared the accuracy, continuity, and gene annotation of genome assemblies generated from either high-fidelity (HiFi) or contin...

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Detalhes bibliográficos
Publicado no:Ann Hum Genet
Main Authors: VOLLGER, MITCHELL R., LOGSDON, GLENNIS A., AUDANO, PETER A., SULOVARI, ARVIS, PORUBSKY, DAVID, PELUSO, PAUL, WENGER, AARON M., CONCEPCION, GREGORY T., KRONENBERG, ZEV N., MUNSON, KATHERINE M., BAKER, CARL, SANDERS, ASHLEY D., SPIERINGS, DIANA C.J., LANSDORP, PETER M., SURTI, URVASHI, HUNKAPILLER, MICHAEL W., EICHLER, EVAN E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7015760/
https://ncbi.nlm.nih.gov/pubmed/31711268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12364
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