NIH’s All of Us Partners with HudsonAlpha on Long-Read Sequencing Project

The NIH’s All of Us Research Program has chosen the HudsonAlpha Institute for Biotechnology to assess the use of DNA sequencing technologies for diagnosis and treatment of common and rare diseases, under a $7 million project to be funded by the agency’s...

NIH’s All of Us Partners with HudsonAlpha on Long-Read Sequencing Project

The NIH’s All of Us Research Program has chosen the HudsonAlpha Institute for Biotechnology to assess the use of DNA sequencing technologies for diagnosis and treatment of common and rare diseases, under a $7 million project to be funded...
DNA Capsules

Proper Prescribing: Pharmacogenetics Testing Gains Traction but Requires a Delicate Balancing Act

Pharmacogenomic testing is gaining traction, but incorporating it into the clinical setting with high fidelity requires a delicate balance.
DNA Test Sanger Sequencing

Ending the Odyssey: Leveraging Improved Sequencing Technology, Rare Disease Diagnosis Speeds Up and Spreads Out

Leveraging improvements in sequencing technology that increase speed and lower costs, rare disease diagnostics broadens its reach.
digital dna

Artificial Intelligence Enhances Oncology

The volume of information that needs to be analyzed to make precision medicine a reality in cancer care is often beyond the realm of the human mind. That’s where artificial intelligence steps in

PerkinElmer Genomics, U. of Iowa Develop FSHD Assay Based on Bionano’s Saphyr

Bionano Genomics announced at the American Society of Human Genetics (ASHG) annual meeting in Houston that PerkinElmer Genomics and the University of Iowa have both adopted use of Bionano’s Saphyr whole-genome imaging platform in their assay development labs, with PerkinElmer being the first to develop and validate an assay...
DNA helix on the colored background

SOPHiA Genetics to Integrate Mastermind Genomic Search Engine

SOPHiA Genetics, a genomic health data company that leverages artificial intelligence to provide clinical and genomic insights, and genomic analysis company Genomenon announced Tuesday at the American Society of Human Genetics (ASHG) annual meeting the integration of Genomenon’s Mastermind Genomic Search Engine with the SOPHiA artificial intelligence platform and...

IVF Preimplantation Test for Aneuploidy

PerkinElmer has introduced the PG-Seq Rapid Non-Invasive Preimplantation Genetic Testing for Aneuploidy (PGT-A) kit, that tests spent embryo culture media for chromosomal abnormalities during in vitro fertilization (IVF) treatment. Traditionally, PGT-A requires an invasive biopsy of a developing embryo for the removal and testing of a few cells. PerkinElmer’s PG-Seq...
digital dna

Artificial Intelligence Enhances Oncology

The volume of information that needs to be analyzed to make precision medicine a reality in cancer care is often beyond the realm of the human mind. That’s where artificial intelligence steps in

Cleveland Clinic, Owlstone Medical Establish Center for Early Disease Detection

Cleveland Clinic said today it is partnering with Owlstone Medical to establish a new center focused on studying the detection of diseases ranging from chronic conditions to cancer by measuring volatile organic compounds (VOCs) in exhaled breath, in combination with other non-invasive biomarkers from other bodily fluids such as...

Exact Sciences, Mayo Clinic Partner on Colorectal Cancer Screening Study

Exact Sciences said it is partnering with Mayo Clinic to launch a study designed to assess more than 150,000 people who have ordered the company’s marketed Cologuard test for colorectal cancer, and follow them for at least seven years to evaluate clinical outcomes. The Voyage study (NCT04124406) is designed to...
Unaligned DNA sequences as shown on an LCD screen

Color, Verily to Return Actionable Genetic Data to Project Baseline Participants

Color and Verily Life Sciences said they will partner to return actionable genetic information to all participants in the Project Baseline Health Study, Verily’s four-year initiative to collect comprehensive health information to better understand health and the transition to disease. Project Baseline Health Study participants will have access to Color’s...
Human microbiome, conceptual illustration

Genetic Differences in Immune System Influences Makeup of Microbiome

Scientists headed by a team at the University of Chicago have shown how genetic differences in the immune system can impact on the types of bacterial communities that colonize the gastrointestinal system. Their studies, in germ-free mice colonized with microbiomes from conventionally reared animals, found that while the makeup...

Third “Short Sleep” Gene Discovered Prevents Memory Deficits

Although it is recommended for most people to get 7 to 9 hours of sleep, there are some people who can sleep for just 4 to 6 hours and feel well-rested. The team that identified two known human genes that promote this “natural short sleep” have now discovered a...
Illustration of a damaged ribonucleic acid or  dna strand

BCH N of 1 Trial Yields Approved Therapy for Single Rare Disease Patient

The promise of precision medicine is focused on providing the right drug to the right patient at the right time. Usually that means matching patients, based on their molecular profiles to specific approved drugs. But precision medicine has never created a unique drug intended to treat one—and only one—patient. Until...

The Next Era in Pathway Proteomics: Turnkey Targeted Quantitation Workflows

REGISTER NOW Broadcast Date: October 1, 2019 Time: 8:00 am PT, 11:00 am ET, 17:00 CET Accurate monitoring of cell signaling pathway proteins, particularly tyrosine phosphorylation (pTyr)...

Cancer Gene Variant Detection Using a Pre-Optimized Sample to Report Workflow

REGISTER NOW Broadcast Date: September 12, 2019 Time: 8:00 am PT, 11:00 am ET, 17:00 CET BRCA1/BRCA2 genes represent the best examples for our current understanding of...

In-Cell Protein Footprinting: A New Tool for Proteome-Wide Structural Biology

VIEW NOW Broadcast Date: June 26, 2019 Time: 8:00 am PT, 11:00 am ET, 17:00 CET Protein structure must be studied in its native cellular environment, otherwise,...
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