The Australian researchers plan to use the technique in an exome sequencing study of 25,000 individuals with epilepsy and aim to develop it into a clinical test.
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.
Germany's Project DEAL has come to an agreement with the publisher Wiley over journal access and open-access publishing, ScienceInsider reports.
Researchers uncover additional loci associated with lifespan, which the Telegraph says could be folded into a genetic test.
A Canadian panel recommends public coverage of the gene therapy Kymriah if its cost comes down, the Globe and Mail reports.
In Nucleic Acids Research this week: new accurate quantification by sequencing approach, CNV breakpoints in Plasmodium falciparum, and more.