Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio

Whole-genome sequencing and whole-exome sequencing are becoming more widely applied in clinical medicine to help diagnose rare genetic diseases. Identification of the underlying causative mutations by genome-wide sequencing is greatly facilitated by concurrent analysis of multiple family members, mo...

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Detalles Bibliográficos
Autores principales: Bodian, Dale L, Solomon, Benjamin D, Khromykh, Alina, Thach, Dzung C, Iyer, Ramaswamy K, Link, Kathleen, Baker, Robin L, Baveja, Rajiv, Vockley, Joseph G, Niederhuber, John E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303223/
https://www.ncbi.nlm.nih.gov/pubmed/25614875
http://dx.doi.org/10.1002/mgg3.107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303223/
https://www.ncbi.nlm.nih.gov/pubmed/25614875
http://dx.doi.org/10.1002/mgg3.107

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