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Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

Whole exome sequencing provides unprecedented opportunities to identify causative DNA variants in rare Mendelian disorders. Finding the responsible mutation via traditional methods in families with hearing loss is difficult due to a high degree of genetic heterogeneity. In this study we combined aut...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Sirmaci, Asli, Edwards, Yvonne J. K., Akay, Hatice, Tekin, Mustafa
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science 2012
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283682/
https://ncbi.nlm.nih.gov/pubmed/22363784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0032000
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