Exome or targeted sequencing on members of families affected by Carey-Fineman-Ziter syndrome led to mutations in the MYMK gene that impact muscle cell fusion.
The IP stems from the work of Anjana Rao, who identified 5-hydroxymethylcytosine (5hmC) as a cancer diagnostic biomarker.
A pair of papers has linked mutations in the DCC gene to agenesis of the corpus callosum as well as to a new syndrome.
The BabySeq project faces lower-than-expected enrollment rates, according to ScienceInsider.
A Mount Sinai researcher described early results from the clinical trial aimed at evaluating the utility of genomic sequencing in healthy and ill newborns.
Clinicians in Boston are beginning to sequence newborns' genomes, CBS Boston reports.
Clinicians in the hospital will use IBM's Watson to identify possible options for diagnosing and treating rare pediatric diseases starting with kidney disease.
By editing a promoter of an enhancer of the mutated hemoglobin responsible for sickle cell disease, the researchers may have found a way to treat it.
Using Quanterix's Simoa technology, the group developed assays to detect C. diff toxins with a high degree of sensitivity and specificity.
The BabySeq project to study the risks and benefits of sequencing newborns is underway.
The Seattle Times writes that pharmacogenomics testing can help choose medications that may work best for people with depression.
Researchers report that deleting one gene from butterflies affects their wing coloration patterns, according to the Washington Post.
In PNAS this week: genome sequencing of weevil symbionts, retinoid X receptor deletion in lung cancer metastasis, and more.
Sequencing could help combat foodborne illnesses, according to a blog post by Food and Drug Administration officials.