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Final Sequenced Data Release from the World’s Largest Whole Exome Sequencing Project of UK Biobank

UK Biobank Released Final Data from the World’s Largest Whole Exome Sequencing Project

UK Biobank has added the final tranche of exome sequencing data to its research database. This represents the completion of cohort-wide exome sequencing for over 470,000 participants within the UK Biobank resource. These de-identified data can now be accessed...

A New Severity Score For Fabry Disease

Fabry disease is caused by loss of function mutations in the X-linked GLA gene, which encodes the enzyme alpha-galactosidase (α-GAL). The main symptoms include localized and full body pain (nervous system), which increases over time, kidney disease, heart disease,...

BC Platforms And Blueprint Genetics Partner To Enable Precision Medicine In Rare Diseases

BC Platforms, a world leader in genomic data management and analytics, has formed a collaboration with Blueprint Genetics, a leader in the field of clinical genetic testing, to develop new data driven services for hospitals and the life sciences industry. BC Platforms, founded...

CureDuchenne Launches Duchenne Muscular Dystrophy Biobank

CureDuchenne, a global leader in research, patient care, and innovation in improving and extending the lives of those living with Duchenne muscular dystrophy (Duchenne), has initiated the development of a biobank for Duchenne in partnership with University of California, Irvine (UCI) and...

Meeting – C-Path and NORD Launch The Rare Disease Cures Accelerator-Data and Analytics Platform

The Critical Path Institute (C-Path) and the National Organization for Rare Disorders® (NORD) will host a meeting on Tuesday, September 17 in Bethesda, Maryland, to formally launch development of a new rare disease data and analytics platform. Funded by...

The Dalglish Family 22q Clinic And Biobank

The Dalglish Family 22q Clinic is the world's first multidisciplinary clinic devoted to adults with 22q11.2 deletion syndrome (22q11.2DS) and their families, located at Toronto General Hospital, Canada. The founding of the clinic was made possible thanks to a...

The PURA Syndrome Biobank – An International Resource

The PURA gene is located at chromosome 5, band q31 . It encodes the Pur alpha (PurA) protein which is a sequence-specific single-stranded-DNA-binding protein that is known to be particularly important for brain development. For example, lack of PurA...

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