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Mendelian disorder

The software offers data processing and management capabilities that are designed to support more automated and efficient whole-exome sequencing-based testing.

The panels yielded a diagnosis for 43 percent of more than 2,300 patients, at a cost between $75 and $150 per panel.

Researchers involved with the WGS500 study reported on findings from more than 150 clinical cases assessed by whole-genome sequencing.

The results, published online in Genome Research last month, suggest that whole-genome sequencing may be able to boost the diagnostic rate of clinical exome sequencing.

Diagnostic sequencing will be done on the Illumina HiSeq X Ten, the HiSeq 2500, and the NextSeq 500 in HudsonAlpha's CLIA-certified Genomics Services Laboratory.

In Genome Research this week: exome sequencing of mouse disease model strains, high-quality genomes of Saccharomyces cerevisiae strains, and more.

DSysMap combines mutation information with protein interaction data to provide a clearer picture of functional changes associated with the development of complex diseases.

The study tracked the prevalence of incidental variants in whole-exome sequences of more than 200 subjects and evaluated different interpretation strategies.

NHGRI will provide the Centers for Common Disease Genomics with $60 million and the Centers for Mendelian Genomics with $10 million.

NEW YORK (GenomeWeb) – The Regeneron Genetics Center, a wholly-owned subsidiary of Regeneron Pharmaceuticals, has partnered with Columbia University Medical Center, the Clinic for Special Children, and Baylor College of Medicine to study a variety of Mendelian diseases.

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Two COVID-19 vaccine developers have released their trial protocols to build public trust, the New York Times reports.

A new analysis finds the rapid COVID-19 test from DnaNudge to be highly accurate, Reuters reports.

In Science this week: global citizens' assembly on genome-editing technologies proposed, epigenetic markers predict metformin response, and more.

According to the Verge, many US states are not including positive results from rapid COVID-19 testing in their case numbers.