Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

PURPOSE: Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative genetic mutation facilitates genetic counse...

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Bibliografski detalji
Glavni autori: Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F., Ali, Manir
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2014
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4136783/
https://ncbi.nlm.nih.gov/pubmed/25133751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104281
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