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Mendelian disorder

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.

A group of researchers at Children's Mercy Hospital, led by Stephen Kingsmore, is using the "rapid mode" capabilities of Illumina's HiSeq2500 combined with novel software tools to sequence the genomes of infants entering Children's Mercy Hospital's neonatal intensive care unit, i

SAN FRANCISCO — Among the many challenges of implementing a clinical sequencing pipeline for diagnostics or to guide treatment, the actual sequencing step is quickly becoming a minor consideration, according to a number of speakers at Cambridge Healthtech Institute's Clinical Gen

NEW YORK (GenomeWeb News) – A University of Washington-led team reported online today that it has successfully sequenced the genome of an 18.5-week-old fetus using non-invasive methods.

NEW YORK (GenomeWeb News) – Researchers from Duke University and the University of Michigan successfully diagnosed around half of the individuals that they tested during a pilot study on the use of clinical exome sequencing, according to a study set to come out online this week in the Journal

Name: Matt Posard
Title: Senior Vice President and General Manager, Translational and Consumer Genomics, Illumina
Experience: Vice President of Global Sales, Illumina, 2007-2012;

By Monica Heger
As exome sequencing quickly becomes the method of choice for diagnosing rare conditions, a number of academic groups and companies have launched tests in recent months and are reporting their first successes.

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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.