With exomes for more than 500 individuals with neural tube defects, researchers are narrowing in on new variants that may raise the risk of the serious congenital conditions.
Researchers used mutations found among individuals with autism to tease out affected pathways, such as ones linked to synaptic function, morphology, and plasticity.
The company hopes to develop saliva-based RNA assays for concussion, Parkinson's disease and autism using biomarkers discovered by its two academic partners.
The Harvard T.H. Chan School of Public Health-led team of researchers combined genome-wide association data and gene expression data on thousands of individuals.
Using large-scale GWAS data, researchers saw shared genetic contributors for ALS and frontotemporal dementia, as well as ALS and progressive supranuclear palsy.
The effort, sponsored by two therapeutics companies, is providing no-cost genetic testing and counseling for people with Duchenne who otherwise couldn't afford it.
As part of Invitae's network, patients can build datasets tracking their experiences with rare conditions and make the deidentified data available for research.
The group will work with hospitals to recruit patients with a genetic history of Parkinson's to test for mutations in LRRK2 and GBA, as well as offer genetic counseling.
The collaborators aim to show that Cytox' VariaTect SNP profiling array and an associated algorithm can effectively predict the presence of Alzheimer's pathology.
Exome sequences for individuals with or without sound-color synesthesia in three multi-generational families led to rare variants in axonogenesis genes.
Newly launched aggregator Seqster will help Boston University researchers collect data from EHRs, wearables, and gene tests to identify concussion biomarkers.
Through a genome-wide association study, meta-analysis, and systems analysis, researchers saw enhanced common variant distribution in mutation-intolerant genes.
Funded projects will will take advantage of molecular platforms that enable large-scale, robust, and reproducible analysis of transcriptional, epigenomic, proteomic, and metabolomic states.
Using pathway and network analyses, researchers identified overlapping genes and biological processes behind smoking and schizophrenia, including new candidate genes.
Lawmakers have asked four direct-to-consumer genetic testing companies to explain their privacy policies and security measures, according to Stat News.
