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Mendelian disorder

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.

About a year in to their efforts, the three Centers for Mendelian Genomics, funded at the end of 2011 by the National Human Genome Research Institute, have collected large pipelines of phenotypes and associated samples to identify the genetic bases of as many Mendelian disorders

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In Science this week: beneficial genetic variants inherited from archaic Neanderthal and Denisovan hominins, and more.

As the Canadian election season heats up, neither major party has really paid much attention to science, according to Nature News.

BBC News says the uncertainty over Brexit is affecting science funding in the UK.

A new app purports to tell users "how gay" they are by looking at their DNA, but experts tell Futurism that the app is bunk.