Fabric Genomics
Fabric Genomics, Intermountain Children's Health Partner for WGS-Based Diagnosis of Sick Kids
The collaboration aims to enhance the precision diagnosis of infants and children using the whole-genome sequencing service provided by Broad Clinical Labs.
Public-Private Effort Leverages WGS to Speed Diagnosis of Rare Genetic Developmental Disorders
Project FIND-OUT aims to recruit 50 infants to study the impact of genetic testing on families and increase access to genetic testing within the US.
Rolled out in partnership with Fabric Genomics, the test includes clinical WGS and variant analysis and interpretation services with a turnaround time of four weeks.
Rady Team Automates Rapid Pediatric Sequence Interpretation for Rare Disease Dx
With machine learning and clinical natural language processing, the team has come up with more automated methods to do provisional diagnoses on children with genetic disease.
As 100K Genomes Project Returns Patient Reports, NHS Prepares to Commission WGS for Diagnostics
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As of this week, the project had sequenced 39,500 genomes and returned reports for about 3,000 rare disease families and more than 600 cancer patients.