Close Menu

Mendelian disorder

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.

NEW YORK (GenomeWeb) – Lower costs, increased education, and more population-specific genomic research are key for clinical sequencing to take hold in India, according to early adopters of the technology.

Pages

ScienceInsider reports that rude and unprofessional paper reviewers are common and can have harmful effects.

The US Senate has confirmed Stephen Hahn as the next commissioner of the Food and Drug Administration, according to the New York Times.

CNBC reports Apple is partnering with Color Genomics to offer its employees free DNA screening for disease.

In Science this week: researchers use CRISPR tool to find gut microbiome molecules involved in immunity, and more.