Semi-automated assembly of high-quality diploid human reference genomes
Semi-automated assembly of high-quality diploid human reference genomes
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Author / Creator
Human Pangenome Reference Consortium , Jarvis, Erich D. , Formenti, Giulio , Rhie, Arang , Guarracino, Andrea , Yang, Chentao , Wood, Jonathan , Tracey, Alan , Thibaud-Nissen, Francoise , Vollger, Mitchell R. , Porubsky, David , Cheng, Haoyu , Asri, Mobin , Logsdon, Glennis A. , Carnevali, Paolo , Chaisson, Mark J. P. , Chin, Chen-Shan , Cody, Sarah , Collins, Joanna , Ebert, Peter , Escalona, Merly , Fedrigo, Olivier , Fulton, Robert S. , Fulton, Lucinda L. , Garg, Shilpa , Gerton, Jennifer L. , Ghurye, Jay , Granat, Anastasiya , Green, Richard E. , Harvey, William , Hasenfeld, Patrick , Hastie, Alex , Haukness, Marina , Jaeger, Erich B. , Jain, Miten , Kirsche, Melanie , Kolmogorov, Mikhail , Korbel, Jan O. , Koren, Sergey , Korlach, Jonas , Lee, Joyce , Li, Daofeng , Lindsay, Tina , Lucas, Julian , Luo, Feng , Marschall, Tobias , Mitchell, Matthew W. , McDaniel, Jennifer , Nie, Fan , Olsen, Hugh E. , Olson, Nathan D. , Pesout, Trevor , Potapova, Tamara , Puiu, Daniela , Regier, Allison , Ruan, Jue , Salzberg, Steven L. , Sanders, Ashley D. , Schatz, Michael C. , Schmitt, Anthony , Schneider, Valerie A. , Selvaraj, Siddarth , Shafin, Kishwar , Shumate, Alaina , Stitziel, Nathan O. , Stober, Catherine , Torrance, James , Wagner, Justin , Wang, Jianxin , Wenger, Aaron , Xiao, Chuanle , Zimin, Aleksey V. , Zhang, Guojie , Wang, Ting , Li, Heng , Garrison, Erik , Haussler, David , Hall, Ira , Zook, Justin M. , Eichler, Evan E. , Phillippy, Adam M. , Paten, Benedict , Howe, Kerstin and Miga, Karen H.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society
1
,
2
. However, it still has many gaps and errors, and does not represent a biological genome as it is a blend of multiple individuals
3
,
4
. Recently, a high-quality telomere-to-...
Alternative Titles
Full title
Semi-automated assembly of high-quality diploid human reference genomes
Authors, Artists and Contributors
Author / Creator
Jarvis, Erich D.
Formenti, Giulio
Rhie, Arang
Guarracino, Andrea
Yang, Chentao
Wood, Jonathan
Tracey, Alan
Thibaud-Nissen, Francoise
Vollger, Mitchell R.
Porubsky, David
Cheng, Haoyu
Asri, Mobin
Logsdon, Glennis A.
Carnevali, Paolo
Chaisson, Mark J. P.
Chin, Chen-Shan
Cody, Sarah
Collins, Joanna
Ebert, Peter
Escalona, Merly
Fedrigo, Olivier
Fulton, Robert S.
Fulton, Lucinda L.
Garg, Shilpa
Gerton, Jennifer L.
Ghurye, Jay
Granat, Anastasiya
Green, Richard E.
Harvey, William
Hasenfeld, Patrick
Hastie, Alex
Haukness, Marina
Jaeger, Erich B.
Jain, Miten
Kirsche, Melanie
Kolmogorov, Mikhail
Korbel, Jan O.
Koren, Sergey
Korlach, Jonas
Lee, Joyce
Li, Daofeng
Lindsay, Tina
Lucas, Julian
Luo, Feng
Marschall, Tobias
Mitchell, Matthew W.
McDaniel, Jennifer
Nie, Fan
Olsen, Hugh E.
Olson, Nathan D.
Pesout, Trevor
Potapova, Tamara
Puiu, Daniela
Regier, Allison
Ruan, Jue
Salzberg, Steven L.
Sanders, Ashley D.
Schatz, Michael C.
Schmitt, Anthony
Schneider, Valerie A.
Selvaraj, Siddarth
Shafin, Kishwar
Shumate, Alaina
Stitziel, Nathan O.
Stober, Catherine
Torrance, James
Wagner, Justin
Wang, Jianxin
Wenger, Aaron
Xiao, Chuanle
Zimin, Aleksey V.
Zhang, Guojie
Wang, Ting
Li, Heng
Garrison, Erik
Haussler, David
Hall, Ira
Zook, Justin M.
Eichler, Evan E.
Phillippy, Adam M.
Paten, Benedict
Howe, Kerstin
Miga, Karen H.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9668749
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9668749
Other Identifiers
ISSN
0028-0836,1476-4687
E-ISSN
1476-4687
DOI
10.1038/s41586-022-05325-5
