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Clinical interpretation of genome variation

Call for papers for our Fall 2019 special issue, guest-edited by Heidi Rehm and Douglas Fowler. Submission deadline: June 1 2019.

Simplifying cancer drug signatures

The authors apply network biology to improve drug response analysis in cancer cell lines. 

Multi-omics of peritoneal mesothelioma

The study identifies BAP1 haploinsufficiency as a potential biomarker for PeM immunotherapy. 

Featured Review

Fittall and Van Loo discuss translating insights into tumor evolution to clinical practice.

A Decade of Genome Medicine

2019 is the 10th anniversary of Genome Medicine! This collection revisits some of our favorite articles. 

Reviews, Research Highlights and Commentaries

Read authoritative Reviews, Opinions and other content commissioned by the Genome Medicine Editors from leading researchers:


Research Highlights

Commentaries (including Editorials, Comments, Opinions, Q&As and Meeting reports)


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Focus: Disease Genetics

Read the latest reviews on Disease Genetics across BMC flagship journals.

Genomic screening for monogenic forms of diabetes
Leslie G. Biesecker
Published in BMC Medicine on: 20 February 2018

Dosage-sensitive genes in evolution and disease
Alan M. Rice and Aoife McLysaght
Published in BMC Biology on: 1 September 2017

Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework
Gustavo Glusman, Peter W. Rose, Andreas Prlić, Jennifer Dougherty, José M. Duarte, Andrew S. Hoffman, Geoffrey J. Barton, Emøke Bendixen, Timothy Bergquist, Christian Bock, Elizabeth Brunk, Marija Buljan, Stephen K. Burley, Binghuang Cai, Hannah Carter, JianJiong Gao, Adam Godzik, Michael Heuer, Michael Hicks, Thomas Hrabe, Rachel Karchin, Julia Koehler Leman, Lydie Lane, David L. Masica, Sean D. Mooney, John Moult, Gilbert S. Omenn, Frances Pearl, Vikas Pejaver, Sheila M. Reynolds, Ariel Rokem, Torsten Schwede, Sicheng Song, Hagen Tilgner, Yana Valasatava, Yang Zhang and Eric W. Deutsch
Published in Genome Medicine on: 18 December 2017

The impact of rare and low-frequency genetic variants in common disease
Lorenzo Bomba, Klaudia Walter and Nicole Soranzo
Published in Genome Biology on: 27 April 2017

Aims and scope

Genome Medicine publishes research and reviews that describe important advances in the application of genetics, genomics and multi-omics to understand, diagnose and treat disease. Areas covered include, but are not limited to: precision medicine, novel methods and software, cancer genomics, disease genomics and epigenomics, immunogenomics, infectious disease, microbiome and systems medicine.

Article collections

Special issue
From genome integrity to cancer
Guest editor: Serena Nik-Zainal

Special issue
Genomics of infection and immunity
Guest editors: Bali Pulendran and Mark Davis

Special issue
Disease Neurogenomics
Guest editors: Joseph Buxbaum and Catalina Betancur

Highlights from infectious disease genomics​​​​​​​

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