The Characterization of Twenty Sequenced Human Genomes: e1001111
The Characterization of Twenty Sequenced Human Genomes: e1001111
About this item
Full title
Author / Creator
Pelak, Kimberly , Shianna, Kevin V , Ge, Dongliang , Maia, Jessica M , Zhu, Mingfu , Smith, Jason P , Cirulli, Elizabeth T , Fellay, Jacques , Dickson, Samuel P , Gumbs, Curtis E , Heinzen, Erin L , Need, Anna C , Ruzzo, Elizabeth K , Singh, Abanish , Campbell, C Ryan , Hong, Linda K , Lornsen, Katharina A , McKenzie, Alexander M , Sobreira, Nara LM , Hoover-Fong, Julie E , Milner, Joshua D , Ottman, Ruth , Haynes, Barton F , Goedert, James J and Goldstein, David B
Publisher
San Francisco: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
San Francisco: Public Library of Science
Subjects
More information
Scope and Contents
Contents
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A and ten "control" genomes. We summarize the number of genetic variants emerging from a study of this...
Alternative Titles
Full title
The Characterization of Twenty Sequenced Human Genomes: e1001111
Authors, Artists and Contributors
Author / Creator
Shianna, Kevin V
Ge, Dongliang
Maia, Jessica M
Zhu, Mingfu
Smith, Jason P
Cirulli, Elizabeth T
Fellay, Jacques
Dickson, Samuel P
Gumbs, Curtis E
Heinzen, Erin L
Need, Anna C
Ruzzo, Elizabeth K
Singh, Abanish
Campbell, C Ryan
Hong, Linda K
Lornsen, Katharina A
McKenzie, Alexander M
Sobreira, Nara LM
Hoover-Fong, Julie E
Milner, Joshua D
Ottman, Ruth
Haynes, Barton F
Goedert, James J
Goldstein, David B
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1313520144
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1313520144
Other Identifiers
ISSN
1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1001111
