Exome Sequencing for Cerebral Palsy Has Sufficient Diagnostic Yield for First-Tier Test
A meta-analysis of prior studies found that the diagnostic yield of exome sequencing for cerebral palsy exceeded 31 percent, similar to other neurodevelopmental disorders.
Cleft Lip-Palate CNV Analysis Uncovers New Clefting Genes
Researchers profiled copy number variants in more than 1,100 individuals, identifying duplications or deletions in known disease genes and in new clefting gene candidates.
Studies Spell Out Rare, Common Variant Contributions to Autism Spectrum Disorder
By analyzing genetic profiles alongside phenotypic data, two research teams characterized distinct roles for rare and common genetic variants linked to autism spectrum disorder.
In four separate studies published this week, researchers showcased the technology by constructing spatiotemporal transcriptomic maps of several model organisms.
The package comprises a battery of genetic tests to detect an array of developmental delays, intellectual disabilities, and autism spectrum disorders.