Scaling accurate genetic variant discovery to tens of thousands of samples

Autor: Christopher W. Whelan, David E. Kling, Stacey Gabriel, Ryan Poplin, Laura D. Gauthier, Ami Levy-Moonshine, Mauricio O. Carneiro, Mark A. DePristo, Monkol Lek, Timothy Fennell, Chandran S, Neale Bm, Khalid Shakir, Ruano-Rubio, Daniel G. MacArthur, Thibault J, Mark J. Daly, Eric Banks, Van der Auwera Ga, David Roazen

Comprehensive disease gene discovery in both common and rare diseases will require the efficient and accurate detection of all classes of genetic variation across tens to hundreds of thousands of human samples. We describe here a novel assembly-based

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45a77772abf2ae757d9f818196e4d371
https://doi.org/10.1101/201178

Diverse broad-host-range plasmids from freshwater carry few accessory genes.

Autor: Brown CJ; Department of Biological Sciences, Institute for Bioinformatics and Evolutionary Studies, University of Idaho, Moscow, Idaho, USA., Sen D, Yano H, Bauer ML, Rogers LM, Van der Auwera GA, Top EM

Publikováno v: Applied and environmental microbiology [Appl Environ Microbiol] 2013 Dec; Vol. 79 (24), pp. 7684-95. Date of Electronic Publication: 2013 Oct 04.

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.

Autor: Van der Auwera GA; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Carneiro MO; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Hartl C; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Poplin R; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Del Angel G; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Levy-Moonshine A; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Jordan T; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Shakir K; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Roazen D; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Thibault J; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Banks E; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Garimella KV; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Altshuler D; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Gabriel S; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., DePristo MA; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts.

Publikováno v: Current protocols in bioinformatics [Curr Protoc Bioinformatics] 2013; Vol. 43, pp. 11.10.1-11.10.33.

Plasmids captured in C. metallidurans CH34: defining the PromA family of broad-host-range plasmids.

Autor: Van der Auwera GA; Department of Microbiology and Molecular Genetics, Harvard Medical School, Boston, MA 02115, USA., Król JE, Suzuki H, Foster B, Van Houdt R, Brown CJ, Mergeay M, Top EM

Publikováno v: Antonie van Leeuwenhoek [Antonie Van Leeuwenhoek] 2009 Aug; Vol. 96 (2), pp. 193-204. Date of Electronic Publication: 2009 Mar 04.

Plasmid exchanges among members of the Bacillus cereus group in foodstuffs.

Autor: Van der Auwera GA; Laboratory of Food and Environmental Microbiology, Université catholique de Louvain, Croix du Sud, 2/12, B-1348 Louvain-la-Neuve, Belgium., Timmery S, Hoton F, Mahillon J

Publikováno v: International journal of food microbiology [Int J Food Microbiol] 2007 Jan 25; Vol. 113 (2), pp. 164-72. Date of Electronic Publication: 2006 Sep 25.