Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

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 hea...

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Bibliografiska uppgifter
I publikationen:eLife
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: eLife Sciences Publications, Ltd 2017
Ämnen:
Genetics and Genomics
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5595434/
https://ncbi.nlm.nih.gov/pubmed/28895531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.25060
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