Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Anja Thormann; Mihail Halachev; William McLaren; David J. Moore; Victoria Svinti; Archie Campbell; Shona M. Kerr; Marc Tischkowitz; Sarah E. Hunt; Malcolm G. Dunlop; Matthew E. Hurles; Caroline F. Wright; Helen V. Firth; Fiona Cunningham; David R. FitzPatrick

doi:10.1038/s41467-019-10016-3

Nature Communications (May 2019)

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Anja Thormann,
Mihail Halachev,
William McLaren,
David J. Moore,
Victoria Svinti,
Archie Campbell,
Shona M. Kerr,
Marc Tischkowitz,
Sarah E. Hunt,
Malcolm G. Dunlop,
Matthew E. Hurles,
Caroline F. Wright,
Helen V. Firth,
Fiona Cunningham,
David R. FitzPatrick

Affiliations

Anja Thormann: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus
Mihail Halachev: MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh
William McLaren: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus
David J. Moore: South East Scotland Regional Genetics Services, Western General Hospital
Victoria Svinti: MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh
Archie Campbell: Centre for Genomic and Experimental Medicine, Institute of Genetics & Molecular Medicine, Western General Hospital, University of Edinburgh
Shona M. Kerr: Centre for Genomic and Experimental Medicine, Institute of Genetics & Molecular Medicine, Western General Hospital, University of Edinburgh
Marc Tischkowitz: Clinical Genetic Department, Addenbrooke’s Hospital Cambridge University Hospitals
Sarah E. Hunt: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus
Malcolm G. Dunlop: MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh
Matthew E. Hurles: Wellcome Sanger Institute, Wellcome Genome Campus
Caroline F. Wright: University of Exeter Medical School, RILD Level 4, Royal Devon & Exeter Hospital
Helen V. Firth: Clinical Genetic Department, Addenbrooke’s Hospital Cambridge University Hospitals
Fiona Cunningham: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus
David R. FitzPatrick: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh

DOI: https://doi.org/10.1038/s41467-019-10016-3
Journal volume & issue: Vol. 10, no. 1
pp. 1 – 10

Abstract

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Diagnostic filtering is an important step to analyze the functional and clinical significance of the large number of genetic variants identified from next-generation genome sequencing data. Here, the authors develop a flexible and scalable system for diagnostic filtering of genetic variants using G2P with Ensembl VEP.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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