The publication detail shows the title, authors (with indicators showing other profiled authors), information on the publishing organization, abstract and a link to the article in PubMed. This abstract is what is used to create the fingerprint of the publication. If any grants are referenced by the publication, they will be listed here as well.
The characterization of twenty sequenced human genomes.
Kimberly Pelak; Kevin V Shianna; Dongliang Ge; Jessica M Maia; Mingfu Zhu; Jason P Smith; Elizabeth T Cirulli; Jacques Fellay; Samuel P Dickson; Curtis E Gumbs; et al. (Profiled Author: Julie Hoover-Fong)
Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America.
PLoS genetics 2010;6(9):.
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 magnitude, and provide a proof of concept for the identification of rare and highly-penetrant functional variants by confirming that the cause of hemophilia A is easily recognizable in this data set. We also show that the number of novel single nucleotide variants (SNVs) discovered per genome seems to stabilize at about 144,000 new variants per genome, after the first 15 individuals have been sequenced. Finally, we find that, on average, each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways.
This section shows information related to the publication - computed using the fingerprint of the publication - including related publications, related experts and related grants with fingerprints representing significant amounts of overlap between their fingerprint and this publication. The red dots indicate whether those experts or terms appear within the publication, thereby showing potential and actual connections.
Gaëlle Marenne; Francisco X Real; Nathaniel Rothman; Benjamin Rodríguez-Santiago; Luis Pérez-Jurado; Manolis Kogevinas; Montse García-Closas; Debra T Silverman; Stephen J Chanock; Emmanuelle Génin; et al.BMC genomics 2012;13():326.
Richard Anney; Lambertus Klei; Dalila Pinto; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S Abrahams; Nuala Sykes; Alistair T Pagnamenta; et al.Human molecular genetics 2010;19(20):4072-82.
J C Venter; M D Adams; E W Myers; P W Li; R J Mural; G G Sutton; H O Smith; M Yandell; C A Evans; R A Holt; et al.Science (New York, N.Y.) 2001;291(5507):1304-51.
Appears in this Publication
Author of this Publication