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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Detaylı Bibliyografya
Yayımlandı:Clin Genet
Asıl Yazarlar: Najafi, Arash, Caspar, Sylvan M., Meienberg, Janine, Rohrbach, Marianne, Steinmann, Beat, Matyas, Gabor
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Blackwell Publishing Ltd 2019
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7004123/
https://ncbi.nlm.nih.gov/pubmed/31506931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13640
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