To make better use of genomics data

Illumina and the Broad Co-Developing Open-Source Secondary Analysis Software

Leading open-source tools, GATK and DRAGEN, are being combined to create a cutting-edge software suite for methods including small variant (SNV) and large variant...
Gemome Sequence Map

Big Data and Clinical Genomics

Progress Is Being Made Toward Using Big Data for Genomics-Guided Precision Medicine Precision medicine springs from a paradox. On the one hand, researchers in the...

Genetic Variants Could Predispose Carriers To More Serious COVID-19 Infections

The researchers found that population distribution of the disease-associated genetic variants differed depending on a person’s ethnic origin. Some of the variants in the ACE2 gene were linked to cardiovascular and lung conditions, whereas some in the TMPRSS2 gene were linked to different cancers.
Black doctor using digital display

The Age of Analytics: Sequencing’s New Frontier Is Clinical Interpretation

David FitzPatrick’s typical patient is a toddler with global developmental delay who is small for her age, has epilepsy, and cannot speak or understand...
Internet network

Prototype Tool Leverages AI to Predict Which COVID-19 Patients Most Likely to Develop Severe...

The tool indicated that a combination of small changes in levels of the liver enzyme alanine aminotransferase (ALT), patient-reported myalgia (aching muscles), and raised hemoglobin levels, most accurately predicted the development severe disease.
Biotechnology, conceptual illustration

Mayo Clinic, Google Partner on AI-Based Diagnostics, Cloud Computing

Mayo Clinic and Google said they will jointly develop artificial intelligence (AI)-based diagnostics and carry out medical research using Google Cloud to store and...
DNA Sequence

EMBL-EBI Launches Free Genetic Disease Diagnostic Software

Researchers at the University of Edinburgh and the European Bioinformatics Institute at the European Molecular Biology Laboratory (EMBL-EBI) have introduced a new diagnostic genome-wide...

Takeda Invests in Patient-Centric Health Data Company Seqster

The investment allows Seqster to ramp up development of its technology which streamlines patient recruitment for clinical trials by matching consenting patients based on their EHR, genomic, and real-time digital data delivered by wearable monitoring devices.
Affectionate, tender male gay couple hugging on beach

GWAS Reveals Five Genetic Variants Associated With Same-Sex Behavior

Working in close consultation with advocacy and outreach groups, an international group of researchers has provided the clearest evidence into the genetic underpinnings of...
Seamless pattern of hand drawn faces of various ethnicities

NIH to Provide $75M to Increase Diversity in Its eMERGE Network

NIH will fund six new “enhanced diversity clinical sites,” to include: the University of Alabama, the Icahn School of Medicine at Mount Sinai, Cincinnati Children's Hospital Medical Center, Columbia University, the Children’s Hospital of Philadelphia, and the University of Washington Medical Center.