Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

The human reference genome assembly plays a central role in nearly all aspects of today's basic and clinical research. GRCh38 is the first coordinate-changing assembly update since 2009; it reflects the resolution of roughly 1000 issues and encompasses modifications ranging from thousands of si...

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Publicat a:Genome Res
Autors principals: Schneider, Valerie A., Graves-Lindsay, Tina, Howe, Kerstin, Bouk, Nathan, Chen, Hsiu-Chuan, Kitts, Paul A., Murphy, Terence D., Pruitt, Kim D., Thibaud-Nissen, Françoise, Albracht, Derek, Fulton, Robert S., Kremitzki, Milinn, Magrini, Vincent, Markovic, Chris, McGrath, Sean, Steinberg, Karyn Meltz, Auger, Kate, Chow, William, Collins, Joanna, Harden, Glenn, Hubbard, Timothy, Pelan, Sarah, Simpson, Jared T., Threadgold, Glen, Torrance, James, Wood, Jonathan M., Clarke, Laura, Koren, Sergey, Boitano, Matthew, Peluso, Paul, Li, Heng, Chin, Chen-Shan, Phillippy, Adam M., Durbin, Richard, Wilson, Richard K., Flicek, Paul, Eichler, Evan E., Church, Deanna M.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2017
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5411779/
https://ncbi.nlm.nih.gov/pubmed/28396521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.213611.116
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