The creator of the Genome Aggregation Database sees an ever-expanding GnomAD database as a centerpiece to improving the diagnosis of rare diseases.
Backed by €19 million in EU funding, the initiative, called BigData@Heart, will create a research platform that could change the way cardiovascular diseases are diagnosed and treated.
Such an atlas could enable investigators to understand how genetic variants impact disease risk, define drug toxicities, improve therapies, and advance regenerative medicine.
The FDA and an academic research consortium have released a framework for communicating high-throughput sequencing computations and data analysis.
The consortium is collecting data from different omics streams for a cohort of individuals with autism spectrum disorders with the long-term goal of improving treatment.
Investigators intend to genotype the biorepository using Illumina arrays with the aim of identifying markers that can be used to inform treatment and prevention efforts.
The companies will recruit and track a cohort of women to study environmental, genetic, and lifestyle factors that may contribute to fertility outcomes.
The company is providing several of its Parsortix instruments to the CANCER-ID consortium as part of an effort to establish liquid biopsy in routine clinical practice.
Backed by €15 million in EU funding, the Ubiquitous Pharmacogenomics Consortium seeks to implement preemptive testing at seven healthcare systems by 2020.
The firm said that the consortium will expand a database that provides insights for clinical partners and shows unusual patterns of drug resistance.
The Centers for Disease Control and Prevention estimates more people get sick and die from drug-resistant germs than previously thought, the Washington Post reports.
According to the Associated Press, three universities and a healthcare institution are sharing a gift of $1 billion.
New rules seek to limit the type of scientific and medical research that can be used to guide public health regulations, the New York Times reports.
In Nature this week: FreeHi-C approach simulates Hi-C data from interacting genome fragments, and more.