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Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.
Castel, Stephane E; Cervera, Alejandra; Mohammadi, Pejman; Aguet, François; Reverter, Ferran; Wolman, Aaron; Guigo, Roderic; Iossifov, Ivan; Vasileva, Ana; Lappalainen, Tuuli.
Affiliation
  • Castel SE; New York Genome Center, New York, NY, USA. scastel@nygenome.org.
  • Cervera A; Department of Systems Biology, Columbia University, New York, NY, USA. scastel@nygenome.org.
  • Mohammadi P; New York Genome Center, New York, NY, USA.
  • Aguet F; Research Programs Unit, Genome-Scale Biology & Medicine, Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Reverter F; New York Genome Center, New York, NY, USA.
  • Wolman A; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Guigo R; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA.
  • Iossifov I; The Scripps Translational Science Institute, La Jolla, CA, USA.
  • Vasileva A; Broad Institute of MIT and Harvard, Cambridge, USA.
  • Lappalainen T; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Nat Genet ; 50(9): 1327-1334, 2018 09.
Article in En | MEDLINE | ID: mdl-30127527
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Disease / Genetic Predisposition to Disease / Polymorphism, Single Nucleotide Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Disease / Genetic Predisposition to Disease / Polymorphism, Single Nucleotide Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: United States Country of publication: United States