U of Cambridge, Genomics England, Illumina to Sequence 10,000 Genomes from Rare Disease Patients | GenomeWeb

NEW YORK (GenomeWeb News) – The University of Cambridge, Genomics England, and Illumina plan to sequence 10,000 whole genomes of children and adults with rare genetic diseases over three years, the organizations said today.

Under the study, called the Rare Diseases Genomes Project, researchers at the University of Cambridge will work with a team at Illumina led by Chief Scientist David Bentley to develop a workflow and processes for bringing routine clinical whole-genome sequencing to patients. Illumina will contribute the sequencing data using its own technology.

Get the full story

This story is free
for registered users

Registering provides access to this and other free content.

Register now.

Already have an account?
Login Now.

In Science this week: certain genes repressed during memory formation, analysis of genomes from single neurons, and more.

NASA plans to test whether DNA sequencing studies can be conducted in microgravity.

Congress passes a continuing resolution to keep the US federal government funded through mid-December.

The Human Genome Project was launched 25 years ago, and at Nature, Francis Collins, James Watson, and Eric Green look back at the lessons learned.

Sponsored by
Personal Genome Diagnostics

This webinar will highlight the key considerations and applications of next-generation sequencing for managing non-small cell lung cancer patients using plasma-based approaches. 

Sponsored by

This webinar will discuss the benefits of a rapid targeted next-generation sequencing (TNGS) panel, using dried blood spots, for second-tier newborn metabolic and hearing loss screening and its immediate utility for high-risk diagnostic testing in the neonatal intensive care unit. 


Brian Wells of Penn Medicine will detail how his team's "PennOmics" integrated healthcare data warehouse accelerates clinical trial recruitment at the point of care, accepts data from wearables, and does it all in a secure, HIPAA- and research-compliant fashion.