The development is a positive for plaintiff Amy Williams, who has said she hopes her lawsuit will spur greater accountability and transparency among genetic testing labs.
The group aims to collect and sequence more than 2,500 blood samples by 2020 to improve primary diagnosis and treatment options for patients suffering from Parkinson's disease.
According to the researchers, led by a team at the University of Cambridge, detecting somatic brain mutations in patients during their life may increase diagnostic precision and lead to new therapies.
An analysis of post-mortem brain transcripts led to Alzheimer's-related alternative gene splicing and expression events, including those influenced by known risk alleles.
The prospective, multi-site clinical trial will evaluate the clinical utility of unbiased sequencing for identifying pathogens in suspected CNS infections.
Centogene will collect dried blood spot samples and perform genetic analysis to find and recruit Parkinson's disease patients for Denali's LRRK2 inhibitor trials.
Researchers found that diagnostic autism NGS panels offered by 21 clinical labs have very little overlap and are working to create a standardized gene list.
Over the next four years, researchers will aim to pinpoint the impact of personal genomic information given to patients with autism and their families.
Researchers explored the role of de novo variants and copy number alterations in the disease using new and existing exome sequences for children with Tourette disorder and their parents.
Cytox will work with AIBL to test new algorithms for identifying individuals most at risk for developing Alzheimer's disease using its current technologies.
An analysis on thousands of Japanese individuals with autism spectrum disorder or schizophrenia uncovered shared pathways and an abundance of rare exonic copy number variants.
The assay was shown to have a simpler workflow and was able to detect mosaicism, with only a slight decrease in sensitivity compared to a lab-developed test.
The framework, called HEAL, could be used as an early screening test for AAA and as a personal health management tool. In addition, it may be applicable to other complex diseases.
ADx Healthcare is selling an APOE test on the Helix marketplace, while HealthLytix and Dash Genomics are marketing a polygenic hazard score for late-onset Alzheimer's.
The University of Zurich's Ruedi Aebersold and his colleagues analyzed a dozen HeLa cell lines to find differences in gene expression, protein levels, and more.
