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Mendelian disorder

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.

By Monica Heger

This article was originally published Dec. 6.

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A new study catalogues the genome and evolutionary history of the oak family, UPI reports.

Dog DNA testing is a growing market, but there's still a lot of uncertainty about the accuracy of the results, the Boston Globe says.

A University of South Florida researcher is testing bone fragments to determine if they belong to Amelia Earhart.

In Cell this week: antisense Piwi-interacting RNA responses to endogenous retroviruses, proteomic patterns in hepatocellular carcinoma, and more.