License and Citation

Published under the GNU Affero General Public License (AGPL), version 3

Please cite the Exomiser using:

Improved exome prioritization of disease genes through cross-species phenotype comparison. Robinson PN, Köhler S, Oellrich A, Sanger Mouse Genetics Project, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M and Smedley Genome research 2014;24;2;340-8

PMID: 24162188; PMC: 3912424; DOI: 10.1101/gr.160325.113

Contact

Publications

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. Smedley D, Schubach M, Jacobsen JOB, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, Robinson PN, The American Journal of Human Genetics 2016;99;3;595-606

PMID: 27569544; DOI: 10.1016/j.ajhg.2016.07.005

Next-generation diagnostics and disease-gene discovery with the Exomiser. Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M et al. Nature protocols 2015;10;12;2004-15

PMID: 26562621; DOI: 10.1038/nprot.2015.124

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Bone WP, Washington NL, Buske OJ, Adams DR, Davis J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015

PMID: 26562225; DOI: 10.1038/gim.2015.137

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases. Smedley D, Köhler S, Czeschik JC, Amberger J, Bocchini C et al. Bioinformatics (Oxford, England) 2014;30;22;3215-22

PMID: 25078397; PMC: 4221119; DOI: 10.1093/bioinformatics/btu508

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J et al. Science translational medicine 2014;6;252;252ra123

PMID: 25186178; PMC: 4512639; DOI: 10.1126/scitranslmed.3009262

Improved exome prioritization of disease genes through cross-species phenotype comparison. Robinson PN, Köhler S, Oellrich A, Sanger Mouse Genetics Project, Wang K et al. Genome research 2014;24;2;340-8

PMID: 24162188; PMC: 3912424; DOI: 10.1101/gr.160325.113