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Whole genome sequencing can improve rare disease diagnosis

Whole genome sequencing can improve rare disease diagnosis

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

25 Jun 2020

gnomAD Consortium releases first set of discoveries on human genetic variation

gnomAD Consortium releases first set of discoveries on human genetic variation

For the last eight years, the Genome Aggregation Database Consortium (and its predecessor, the Exome Aggregation Consortium, or ExAC), has been working with geneticists around the world to compile and study more than 125,000 exomes and 15,000 whole genomes from populations around the world.

29 May 2020

Study could bolster understanding and treatment for rare, genetic eye disease

Study could bolster understanding and treatment for rare, genetic eye disease

Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies. This disease impacts the gene encoding protein transthyretin which is produced in the liver and also eyes.

6 Apr 2020

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