title: Computational approaches to identify functional genetic variants in cancer genomes.
abstract: The International Cancer Genome Consortium (ICGC) aims to catalog genomic abnormalities in tumors from 50 different cancer types. Genome sequencing reveals hundreds to thousands of somatic mutations in each tumor but only a minority of these drive tumor progression. We present the result of discussions within the ICGC on how to address the challenge of identifying mutations that contribute to oncogenesis, tumor maintenance or response to therapy, and recommend computational techniques to annotate somatic variants and predict their impact on cancer phenotype.
authors.affiliation: Research Unit on Biomedical Informatics, University Pompeu Fabra, Barcelona, Spain.
authors.forename: Abel
authors.initials: A
authors.lastname: Gonzalez-Perez
authors.forename: Ville
authors.initials: V
authors.lastname: Mustonen
authors.forename: Boris
authors.initials: B
authors.lastname: Reva
authors.forename: Graham R S
authors.initials: GR
authors.lastname: Ritchie
authors.forename: Pau
authors.initials: P
authors.lastname: Creixell
authors.forename: Rachel
authors.initials: R
authors.lastname: Karchin
authors.forename: Miguel
authors.initials: M
authors.lastname: Vazquez
authors.forename: J Lynn
authors.initials: JL
authors.lastname: Fink
authors.forename: Karin S
authors.initials: KS
authors.lastname: Kassahn
authors.forename: John V
authors.initials: JV
authors.lastname: Pearson
authors.forename: Gary D
authors.initials: GD
authors.lastname: Bader
authors.forename: Paul C
authors.identifier: 0000000305537520
authors.initials: PC
authors.lastname: Boutros
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Muthuswamy
authors.forename: B F Francis
authors.initials: BF
authors.lastname: Ouellette
authors.forename: Jüri
authors.initials: J
authors.lastname: Reimand
authors.forename: Rune
authors.identifier: 0000000304204839
authors.initials: R
authors.lastname: Linding
authors.forename: Tatsuhiro
authors.initials: T
authors.lastname: Shibata
authors.forename: Alfonso
authors.initials: A
authors.lastname: Valencia
authors.forename: Adam
authors.initials: A
authors.lastname: Butler
authors.forename: Serge
authors.initials: S
authors.lastname: Dronov
authors.forename: Paul
authors.initials: P
authors.lastname: Flicek
authors.forename: Nick B
authors.initials: NB
authors.lastname: Shannon
authors.forename: Hannah
authors.initials: H
authors.lastname: Carter
authors.forename: Li
authors.initials: L
authors.lastname: Ding
authors.forename: Chris
authors.initials: C
authors.lastname: Sander
authors.forename: Josh M
authors.initials: JM
authors.lastname: Stuart
authors.forename: Lincoln D
authors.initials: LD
authors.lastname: Stein
authors.forename: Nuria
authors.initials: N
authors.lastname: Lopez-Bigas
mesh_terms: D019295:Computational Biology / Q000379:methods*; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*
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