How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era-Reference-Cited by-同舟云学术

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How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

Published:2016-09-26 Issue:12 Volume:37 Page:1272-1282
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Salgado David¹,Bellgard Matthew I.²³,Desvignes Jean-Pierre¹,Béroud Christophe¹⁴

Affiliation:

1. Aix Marseille University; INSERM; GMGF; Marseille France

2. Centre for Comparative Genomics; Murdoch University; Perth Western Australia Australia

3. Western Australian Neuroscience Research Institute; Perth Western Australia Australia

4. APHM, Hôpital TIMONE Enfants; Laboratoire de Génétique Moléculaire; Marseille France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference96 articles.

1. A global reference for human genetic variation;Auton;Nature,2015

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. FMFilter: a fast model based variant filtering tool;Akgün;J Biomed Inform,2016

4. An evolutionary approach to the high frequency of the Delta F508 CFTR mutation in European populations;Alfonso-Sánchez;Med Hypotheses,2010

5. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res,2015

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