Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

BACKGROUND: Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. METHODS: We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory t...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Yang, Yaping, Muzny, Donna M., Reid, Jeffrey G., Bainbridge, Matthew N., Willis, Alecia, Ward, Patricia A., Braxton, Alicia, Beuten, Joke, Xia, Fan, Niu, Zhiyv, Hardison, Matthew, Person, Richard, Bekheirnia, Mir Reza, Leduc, Magalie S., Kirby, Amelia, Pham, Peter, Scull, Jennifer, Wang, Min, Ding, Yan, Plon, Sharon E., Lupski, James R., Beaudet, Arthur L., Gibbs, Richard A., Eng, Christine M.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2013
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC4211433/
https://ncbi.nlm.nih.gov/pubmed/24088041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1306555
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन