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Article

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

PloS one - 1 Jan 2015

Bao Riyue, Hernandez Kyle, Huang Lei, Kang Wenjun, Bartom Elizabeth, Onel Kenan, Volchenboum Samuel, Andrade Jorge

Abstract excerpt

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 publicly-available software for the detection of germline and somatic variants, concordance is generally limited among...

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PMID: 26271043
DOI: 10.1371/journal.pone.0135800
PMCID: PMC4535852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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