Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

doi:10.7554/eLife.25060

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Article

Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

eLife - 12 Sept 2017

Belbin Gillian Morven, Odgis Jacqueline, Sorokin Elena P, Yee Muh-Ching, Kohli Sumita, Glicksberg Benjamin S, Gignoux Christopher R, Wojcik Genevieve L, Van Vleck Tielman, Jeff Janina M, Linderman Michael, Schurmann Claudia, Ruderfer Douglas, Cai Xiaoqiang, Merkelson Amanda, Justice Anne E, Young Kristin L, Graff Misa, North Kari E, Peters Ulrike, James Regina, Hindorff Lucia, Kornreich Ruth, Edelmann Lisa, Gottesman Omri, Stahl Eli Ea, Cho Judy H, Loos Ruth Jf, Bottinger Erwin P, Nadkarni Girish N, Abul-Husn Noura S, Kenny Eimear E

Abstract excerpt

Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the...

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PMID: 28895531
DOI: 10.7554/eLife.25060
PMCID: PMC5595434

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