With sequence data for 910 African individuals, researchers found more than 296 million bases of sequence not represented in the human reference genome GRCh38.
A study presented at the National Society of Genetic Counselors annual meeting last week analyzed how counseling sessions affected patients on five measures.
Nashville Biosciences will offer access to BioVU, Vanderbilt University Medical Center's collection of DNA samples and patient records, through BC Platforms' solution.
Consulting company McKinsey says diagnostics companies will have to combine genomic data analysis, electronic medical records, effective reimbursement strategies, and regulatory compliance in order to win.
A new report has found that researchers in Africa are still heavily dependent on funding from organizations in the US, Europe, and China, Nature News says.
While next-generation sequencing (NGS) has driven recent advances in precision oncology research, it often falls short when identifying the molecular mechanisms underlying many malignancies. As a result, alternative NGS-based approaches are needed to identify oncogenic drivers and potential drug targets.
Rhythm Pharmaceuticals and Genomenon will discuss their efforts to assemble a database of mutations associated with rare genetic disorders of obesity, and how this was optimized to facilitate a deep understanding of the variant landscape of melanocortin-4 receptor (MC4R)-pathway genes. This database may help identify MC4R-pathway deficient individuals who might benefit from future precision therapies.
