Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.

doi:10.1371/journal.pgen.1007111

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Article

Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.

PLoS genetics - 1 Feb 2018

Waller Rosalie G, Darlington Todd M, Wei Xiaomu, Madsen Michael J, Thomas Alun, Curtin Karen, Coon Hilary, Rajamanickam Venkatesh, Musinsky Justin, Jayabalan David, Atanackovic Djordje, Rajkumar S Vincent, Kumar Shaji, Slager Susan, Middha Mridu, Galia Perrine, Demangel Delphine, Salama Mohamed, Joseph Vijai, McKay James, Offit Kenneth, Klein Robert J, Lipkin Steven M, Dumontet Charles, Vachon Celine M, Camp Nicola J

Abstract excerpt

The high-risk pedigree (HRP) design is an established strategy to discover rare, highly-penetrant, Mendelian-like causal variants. Its success, however, in complex traits has been modest, largely due to challenges of genetic heterogeneity and complex inheritance models. We describe a HRP strategy that addresses intra-familial heterogeneity, and identifies inherited segments important for mapping regulatory risk....

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PMID: 29389935
DOI: 10.1371/journal.pgen.1007111
PMCID: PMC5794067

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USP45

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