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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Xehetasun bibliografikoak
Argitaratua izan da:Ann Hum Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2019
Gaiak:
Article
Sarrera elektronikoa: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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