Close Menu

Mendelian disorder

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

NEW YORK (GenomeWeb News) – A pair of studies appearing online today in Neuron have unearthed new inherited recessive mutations that appear to either contribute to or cause autism spectrum disorder.

Beta testers of Illumina’s recently announced RapidTrack sequencing service said they have been impressed with its ease and data quality and plan to continue to use it to study rare childhood diseases.

Pages

NPR reports that many USDA researchers working at the two agencies that are relocating to the Kansas City area are declining to go.

Genetic genealogy has helped exonerate a man who has been jailed for 20 years, Agence France Presse reports.

A new report says genetically modified food might be necessary to be able to feed a planet of nearly 10 billion people, Bloomberg says.

In Nature this week: new RNA editing approach called LEAPER, draft assembly of Musa balbisiana banana genome, and more.