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 pediatric health system will use RPRD's pharmacogenomics testing platform in its cancer and blood disorder clinic and its neurology/psychology practice.
Metagenomic sequencing may be a good tool to improve the diagnostic rate because it is such a broad approach and does not require "guessing" at the potential pathogen.
Researchers identified Neanderthal alleles associated with human conditions using genotypic and phenotypic information in health records for more than 28,000 individuals.
The results showed that syndromic forms of autism are more likely when children have alterations of genes in the mGluR pathway.
A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.
Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.
In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.
A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.