Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Targeted hybridization enrichment prior to next-generation sequencing is a widespread method for characterizing sequence variation in a research setting, and is being adopted by diagnostic laboratories. However, the number of variants identified can overwhelm clinical laboratories with strict time c...

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Detalles Bibliográficos
Autores principales: Watson, Christopher M, Crinnion, Laura A, Morgan, Joanne E, Harrison, Sally M, Diggle, Christine P, Adlard, Julian, Lindsay, Helen A, Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T, Taylor, Graham R, Carr, Ian M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285299/
https://www.ncbi.nlm.nih.gov/pubmed/24307375
http://dx.doi.org/10.1002/humu.22490

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285299/
https://www.ncbi.nlm.nih.gov/pubmed/24307375
http://dx.doi.org/10.1002/humu.22490

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