Publications

A list of publications arising from the Project is shown below. If you are publishing on the Project, or know of a relevant publication not listed here, please contact us.

How to cite us

The 100,000 Genomes Project Protocol v3, Genomics England. doi:10.6084/m9.figshare.4530893.v2. 2017.

Publications on the 100,000 Genomes Project

The DNA of a nation
Vivien Marx
Nature 524, 503–505 (27 August 2015)

The dawn of genomic medicine: the role of the 100,000 Genomes Project in breast care management
Julian Barwell, Corrina Powell, Helen Harrison
Breast Cancer Management 5, 7-11 (8 February 2016)

The 100,000 Genomes Project: What it means for paediatrics
Blanche Griffin, Lyn Chitty, Maria Bitner-Glindzicz
Archives of Disease in Childhood Education and Practice 0, 1-3 (9 December 2016)

Useful links

Rare disease gene PanelApp
A crowdsourcing tool for the scientific and clinical community to share, download, view and evaluate gene panels.

Nominate
GeCIP members and GMC staff can nominate a rare disease or tumour type to include in the Project, or propose a change to existing eligibility criteria.

Current research
Current research projects granted access to the 100,00 Genomes Project dataset.

Publications
Publications arising from the Project, plus how to cite the Project.

Genomic Medicine Centres
Find out about the NHS Genomic Medicine Centres (GMCs) that are recruiting participants.

young woman working in a research centre

Participant stories
Short videos from people who have taken part in the Project.