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.
The firm wants to develop a test that can provide objective, reliable, and rapid information so that clinicians can make critical decisions in circumstances of high uncertainty.
The pediatric health system will use RPRD's pharmacogenomics testing platform in its cancer and blood disorder clinic and its neurology/psychology practice.
Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.
Vox wonders whether gene-editing crops will be viewed similarly as genetically modified organisms of if people will give them a try.
In Science this week: research regulation and reporting requirement reform, and more.
With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.