Jannovar: A Java Library for Exome Annotation-Reference-Cited by-同舟云学术

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Jannovar: A Java Library for Exome Annotation

Published:2014-04-09 Issue:5 Volume:35 Page:548-555
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Jäger Marten¹²,Wang Kai³,Bauer Sebastian¹,Smedley Damian⁴,Krawitz Peter¹²⁵,Robinson Peter N.¹²⁵⁶

Affiliation:

1. Institute for Medical and Human Genetics; Charité-Universitätsmedizin Berlin; Berlin Germany

2. Berlin Brandenburg Center for Regenerative Therapies (BCRT); Charité-Universitätsmedizin Berlin; Berlin Germany

3. Zilkha Neurogenetic Institute; University of Southern California; Los Angeles California

4. Mouse Informatics group; Wellcome Trust Sanger Institute; Hinxton UK

5. Max Planck Institute for Molecular Genetics; Berlin Germany

6. Institute for Bioinformatics; Department of Mathematics and Computer Science; Freie Universität Berlin; Berlin Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Hum Mutat,1998

2. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011

3. Berg MD Cheong O Kreveld MV Overmars M 2008 Santa Clara, California Springer-Verlag TELOS

4. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease;Choi;Hum Mutat,2012

5. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3;Cingolani;Fly,2012

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