We’d like to bring your attention to the following NM-INBRE supported article that was recently published in Science Translational Medicine:

 

Human Genomics

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

 

Test can spot 500-plus recessive genetic disorders (Reuters)

A team of scientists at the National Center for Genome Resources in New Mexico has developed a test that could spot more than 500 gene mutations that can be passed on by both parents to their children. They also found during the research, which is published in Science Translational Medicine, that people carry an average of two or three gene variants that, by chance, could cause their children to inherit one of the diseases or conditions.

The National Center for Genomes Resources in Santa Fe, NM, houses the New Mexico INBRE’s Bioinformatics and DNA Sequencing Core. Faye Schilkey, core director, is a coauthor on the paper; INBRE funds supported the operation of next-gen DNA sequencing facilities and data acquisition and analyses.

The article was featured last week in Reuters, and NPR’s All Things Considered.

The article will also be highlighted by the Director of NCRR, Barbara Alving, at the January Council meeting.

 

If you’re interested in a copy of the article, please contact This e-mail address is being protected from spambots. You need JavaScript enabled to view it. l.

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