Advancing Genetic Testing for Deafness with Genomic Technology

BACKGROUND: Non-syndromic hearing loss (NSHL) is the most common sensory impairment in humans. Until recently its extreme genetic heterogeneity precluded comprehensive genetic testing. Using a platform that couples targeted genomic enrichment (TGE) and massively parallel sequencing (MPS) to sequence...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Shearer, A. Eliot, Black-Ziegelbein, E. Ann, Hildebrand, Michael S., Eppsteiner, Robert W., Ravi, Harini, Joshi, Swati, Guiffre, Angelica C., Sloan, Christina M., Happe, Scott, Howard, Susanna D., Novak, Barbara, DeLuca, Adam P., Taylor, Kyle R., Scheetz, Todd E., Braun, Terry A., Casavant, Thomas L., Kimberling, William J., LeProust, Emily M., Smith, Richard J.H.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2013
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3887546/
https://ncbi.nlm.nih.gov/pubmed/23804846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101749
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