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Fetal exome sequencing

Results from a retrospective study support clinical exome sequencing as a useful prenatal diagnostic tool

Tumor biology and microbial ecology

A multi-omic analysis of the microbiome associated with mismatch repair status in colorectal cancer

Monitoring hypervirulent pathogens

Siderophore loci inform genomic surveillance efforts for hypervirulent K. pneumoniae

Recent advances in immunotherapies

Bucktrout, Bluestone & Ramsdell cover T cell therapies in infection, autoimmunity, and cancer 

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: Neurobiology in Health and Disease

Read the latest Reviews on neurobiology across BMC flagship journals.

Ultrasound and dynamic functional imaging in vascular cognitive impairment and Alzheimer’s disease
Branko Malojcic, Panteleimon Giannakopoulos, Farzaneh A. Sorond, Elsa Azevedo, Marina Diomedi, Janja Pretnar Oblak, Nicola Carraro, Marina Boban, Laszlo Olah, Stephan J. Schreiber, Aleksandra Pavlovic, Zsolt Garami, Nantan M. Bornstein and Bernhard Rosengarten
Published in BMC Medicine on: 09 February 2017

The biological function of the cellular prion protein: an update
Marie-Angela Wulf, Assunta Senatore and Adriano Aguzzi
Published in BMC Biology on: 02 May 2017

New insights into the generation and role of de novo mutations in health and disease
Rocio Acuna-Hidalgo, Joris A. Veltman and Alexander Hoischen
Published in Genome Biology on: 28 November 2016

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, Bradley P. Coe and Evan E. Eichler
Published in Genome Medicine on: 27 November 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
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​​​​​​​

Special issue
Genomic technologies: development and clinical application
Guest editor: Stephen Kingsmore

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