An exome-wide association study drew attention to a rare variant in TM2D3 that is more common among people of Icelandic heritage.
Researchers from the University of Texas at Dallas have designed a modular, virally-delivered, doxycycline-induced CRISPR/Cas9 system.
ImmunArray will use Quanterix's Simoa single-molecule array technology for biomarker analysis, with the potential to enrich its diagnostic panels.
By focusing on sequences that have diverged rapidly in humans, researchers identified regulatory sequences suspected of affecting neural processes.
Experts led by Duke neuroscientist Allen Roses developed the database hoping to boost researchers' ability to explore the role of short structural variants in complex diseases.
The researchers built a three-protein panel that identified patients who developed Alzheimer's disease with a sensitivity of 80 percent and specificity of 79 percent.
HUG's genetic medicine arm will use Saphetor's software and variant knowledgebase in clinical projects focused on developmental and neurological disorders.
Using data from the Simons Simplex Collection, researchers estimated that 5 percent of autism spectrum disorder cases may involve mosaic de novo mutations.
The initiative was launched to conduct a large-scale study of cognitive impairment and Alzheimer's disease to advance the discovery of biomarkers of the conditions.
The deal, which included $225 million in upfront payments and up to $185 million in milestones, gives Myriad entry into the neuroscience space.
The funding will support nine projects investigating why Alzheimer's disease disproportionately affects women versus men.
Through their combined genetic and epigenetic study of schizophrenia, the researchers have generated a list of genes affected by risk factors for the disease.
It is now up to Margaret Seymour, a senior judge in US District Court in the District of South Carolina, whether Williams' case should be dismissed or decided by a jury.
The expression signature reflects the role of protein aggregation in disease progression.
The company has recently launched its first diagnostic test on the market and is developing a second, which is currently in clinical trials.
The company said it will use the proceeds to develop and commercialize its pipeline of metabolomics-based products.
Despite the historical adoption and reimbursement challenges for PGx testing firms, Myriad said it would try to achieve value-based pricing for Assurex's GeneSight test.
A comparative genomic study identified human-specific duplications at a chromosome 16p11.2 region implicated in autism and other conditions.
Exome sequences from thousands of parent-child trios led to 10 new genes in which de novo mutations are over-represented in individuals with intellectual disability.
Princeton University researchers uncovered hundreds of candidate autism risk genes and validated them in a large sequencing study.
In PLOS this week: genetic study of breast cancer in Egyptian families, mutations linked to cleft lip and palate, and more.
Council Bluffs, Iowa, schools are encouraging more girls to pursue STEM courses, according to the Associated Press.
Because of new open-access requirements, Gates Foundation-funded researchers can't publish in some top journals, Nature News reports.
In Science this week: deletion of one microRNA allows pluripotent stem cells to form embryonic and non-embryonic lineages, and more.