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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2017
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595434/
https://www.ncbi.nlm.nih.gov/pubmed/28895531
http://dx.doi.org/10.7554/eLife.25060

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