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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...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Public Library of Science
2012
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| Assuntos: | |
| Acceso en liña: | 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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