Researchers reached clinical diagnoses in 35 percent of cases undergoing evaluation over 20 months, sometimes leading to treatment changes.
A new study suggests that common variants influence neurodevelopmental disorder risk and the way the conditions manifestation themselves.
With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
The company plans to test both its current technology and explore novel signatures using samples from Mayo's biobank.
Exome sequences for individuals with or without sound-color synesthesia in three multi-generational families led to rare variants in axonogenesis genes.
Q-State Biosciences, which focuses on neurologic disorders, will work closely with WuXi NextCode to relaunch Claritas' exome assays.
The partners are planning to conduct meta-analyses of shared exome datasets from patients with inherited neurological disorders.
The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.
PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.
A study focused on rare CNVs unearthed a subset of Tourette cases affected by deletions in the NRXN1 gene or duplications in the CNTN6 gene.
This year's Breakthrough Prize winners include a pair that developed a therapy for spinal muscular atrophy.
The New York Times reports on how white supremacists misconstrue genetic research, concerning many geneticists.
Researchers find that people's genetics influence their success at university, but that it is not the only factor.
In Nature this week: approach to identify genetic variants that affect trait variability, application of read clouds to microbiome samples, and more.