Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies-Reference-Cited by-同舟云学术

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

Published:2019-10 Issue:2 Volume:97 Page:235-245
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Najafi Arash¹²,Caspar Sylvan M.¹,Meienberg Janine¹,Rohrbach Marianne³,Steinmann Beat³,Matyas Gabor¹⁴^ORCID

Affiliation:

1. Center for Cardiovascular Genetics and Gene DiagnosticsFoundation for People with Rare Diseases Schlieren‐Zurich Switzerland

2. Cantonal Hospital WinterthurInstitute of Radiology and Nuclear Medicine Winterthur Switzerland

3. Division of Metabolism and Children's Research CenterUniversity Children's Hospital Zurich Eleonore Foundation Zurich Switzerland

4. Zurich Center for Integrative Human PhysiologyUniversity of Zurich Zurich Switzerland

Funder

Ernst Göhner Stiftung

Gebauer Stiftung

Dr. Med. Arthur und Estella Hirzel-Callegari Stiftung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13640

Reference55 articles.

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5. Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

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