Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness
Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 autozygosity mapping and whole exome sequencing in a...
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Full title
Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness
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TN_cdi_plos_journals_1323859091
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1323859091
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0032000
