Article

Genetic Identification of a Common Collagen Disease in Puerto Ricans <i>via</i> Identity-by-Descent Mapping in a Health System

2017-05-24

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 a...

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Literature Corpus work: 20fd2645-a78d-5819-a8b5-43d5745eed84
DOI: 10.1101/141820

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