NEW YORK (GenomeWeb) – Genomic sequencing performed as part of the BabySeq project recently revealed a puzzling variant in a newborn.

Researchers working on the project performed sequencing on the baby and identified an alteration in RYR1, a gene that codes for a protein present in skeletal muscle. Variants in this gene have been linked to congenital myopathy, a kind of muscle weakness present at birth, and RYR1 variants are also known to cause malignant hypothermia, a condition set off by anesthesia that can lead to heat stroke, infections, and even death.

Get the full story with
GenomeWeb Premium

Only $95 for the
first 90 days*

A trial upgrade to GenomeWeb Premium gives you full site access, interest-based email alerts, access to archives, and more. Never miss another important industry story.

Try GenomeWeb Premium now.

Already a GenomeWeb Premium member? Login Now.
Or, See if your institution qualifies for premium access.

*Before your trial expires, we’ll put together a custom quote with your long-term premium options.

Not ready for premium?

Register for Free Content
You can still register for access to our free content.

Gene drives might run into biological resistance, the Economist reports.

Forensic experts exhumed painter Salvador Dalí's body to collect DNA for a paternity test, CBS News reports.

Yale Environment 360 writes that synthetic and conservation biologists aren't always on the same wavelength, but they are trying to reach an understanding.

In Science this week: full CRISPR locus integration complex structure, and more.