Lessons learned from additional research analyses of unsolved clinical exome cases

BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. METHODS: We designed and implemented protocols for the study of cases fo...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Harel, Tamar, Rosenfeld, Jill A., Gambin, Tomasz, Stray-Pedersen, Asbjørg, Küry, Sébastien, Mercier, Sandra, Lessel, Davor, Denecke, Jonas, Wiszniewski, Wojciech, Penney, Samantha, Liu, Pengfei, Bi, Weimin, Lalani, Seema R., Schaaf, Christian P., Wangler, Michael F., Bacino, Carlos A., Lewis, Richard Alan, Potocki, Lorraine, Graham, Brett H., Belmont, John W., Scaglia, Fernando, Orange, Jordan S., Jhangiani, Shalini N., Chiang, Theodore, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Xia, Fan, Beaudet, Arthur L., Boerwinkle, Eric, Eng, Christine M., Plon, Sharon E., Sutton, V. Reid, Gibbs, Richard A., Posey, Jennifer E., Yang, Yaping, Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5361813/
https://ncbi.nlm.nih.gov/pubmed/28327206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0412-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados