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.

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The US National Institutes of Health has developed guidelines to gauge whether frail chimpanzees are healthy enough to be moved to a retirement sanctuary.

Osamu Shimomura, who won the 2008 Nobel Prize in Chemistry for his work on green fluorescent protein, has died.

Stat News reports that the head of IBM Watson Health is leaving her post.

In PLOS this week: analytical approach for finding new genetic associations, analysis of Streptococcus pyogenes-infecting viruses, and more.

Nov
05
Sponsored by
Sophia Genetics

With the Next Generation Sequencing (NGS), genomes sequencing has been democratized over the last decades with the detection of genomic alterations, thus replacing Sanger sequencing.