Close Menu

Mendelian disorder

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.

The International Rare Disease Consortium's goal is to develop diagnostics for all 6,000 to 8,000 known rare diseases and develop therapies for 200 of those by 2020. As part of the project, NHGRI will support exome sequencing of Mendelian diseases under a previously announced program that will fund two centers for a total of $40 million over four years.

Pages

23andMe is offering early customers re-testing on newer chips for a fee, Wired reports.

He Jiankui is no longer affiliated with Direct Genomics Biotechnology, the single molecule sequencing company he founded, Nikkei Asian Review reports.

Newsweek writes about the hopes for precision medicine in cancer, but also challenges getting it to patients.

In Genome Research this week: genomic architecture of glioblastoma, predictive computational approach to estimate SNP fitness, and more.