Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Genome‐scale high‐throughput sequencing enables the detection of unprecedented numbers of sequence variants. Variant filtering and interpretation are facilitated by mutation databases, in silico tools, and population‐based reference datasets such as ExAC/gnomAD, while variants are classified using t...

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Detalles Bibliográficos
Autores principales: Najafi, Arash, Caspar, Sylvan M., Meienberg, Janine, Rohrbach, Marianne, Steinmann, Beat, Matyas, Gabor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004123/
https://www.ncbi.nlm.nih.gov/pubmed/31506931
http://dx.doi.org/10.1111/cge.13640

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004123/
https://www.ncbi.nlm.nih.gov/pubmed/31506931
http://dx.doi.org/10.1111/cge.13640

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