ExScalibur: A High-Performance Cloud-Enabled Suite for Whole Exome Germline and Somatic Mutation Identification

Whole exome sequencing has facilitated the discovery of causal genetic variants associated with human diseases at deep coverage and low cost. In particular, the detection of somatic mutations from tumor/normal pairs has provided insights into the cancer genome. Although there is an abundance of publ...

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Vydáno v:	PLOS ONE Ročník 10; číslo 8; s. e0135800
Hlavní autoři:	Bao, Riyue, Hernandez, Kyle, Huang, Lei, Kang, Wenjun, Bartom, Elizabeth, Onel, Kenan, Volchenboum, Samuel, Andrade, Jorge
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States Public Library of Science (PLoS) 13.08.2015 Public Library of Science
Témata:	Algorithms Alignment Archives & records Bioinformatics Cancer Cancer genetics Cloud computing Computation Computational Biology Computer programs Computers Consortia Data analysis Data processing Exome Exome - genetics Freeware Gene sequencing Genetic aspects Genetic diversity Genetic variance Genomes Genomics Germ-Line Mutation Germ-Line Mutation - genetics High performance computing Humans Informatics Interactive control Internet Medicine Mutation Mutation - genetics Pediatrics Pipelining (computers) Q Quality control R Reproducibility Reproducibility of Results Research Article Researchers Science Sensitivity analysis Software Source code United States > US Illinois Chicago Illinois
ISSN:	1932-6203, 1932-6203
On-line přístup:	Získat plný text
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