An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated cli...

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Detalles Bibliográficos
Autores principales: Haghighi, Alireza, Krier, Joel B., Toth-Petroczy, Agnes, Cassa, Christopher A., Frank, Natasha Y., Carmichael, Nikkola, Fieg, Elizabeth, Bjonnes, Andrew, Mohanty, Anwoy, Briere, Lauren C., Lincoln, Sharyn, Lucia, Stephanie, Gupta, Vandana A., Söylemez, Onuralp, Sutti, Sheila, Kooshesh, Kameron, Qiu, Haiyan, Fay, Christopher J., Perroni, Victoria, Valerius, Jamie, Hanna, Meredith, Frank, Alexander, Ouahed, Jodie, Snapper, Scott B., Pantazi, Angeliki, Chopra, Sameer S., Leshchiner, Ignaty, Stitziel, Nathan O., Feldweg, Anna, Mannstadt, Michael, Loscalzo, Joseph, Sweetser, David A., Liao, Eric, Stoler, Joan M., Nowak, Catherine B., Sanchez-Lara, Pedro A., Klein, Ophir D., Perry, Hazel, Patsopoulos, Nikolaos A., Raychaudhuri, Soumya, Goessling, Wolfram, Green, Robert C., Seidman, Christine E., MacRae, Calum A., Sunyaev, Shamil R., Maas, Richard L., Vuzman, Dana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Perspective
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089983/
https://www.ncbi.nlm.nih.gov/pubmed/30131872
http://dx.doi.org/10.1038/s41525-018-0060-9

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