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Saphetor Variant Analysis Platform v.5.4

Saphetor has launched the newest version of its Variant Analysis Platform, v.5.4. The updated version has improved variant classification in line with American College of Medical Genetics and Genomics guidelines. It also includes more annotations, such as gnomAD exomes and updated and curated Clinvar data, an improved upload process, and improved read alignment interface for multi-sample analyses.

The Scan

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.

Circulating Tumor DNA Linked to Post-Treatment Relapse in Breast Cancer

Post-treatment detection of circulating tumor DNA may identify breast cancer patients who are more likely to relapse, a new JCO Precision Oncology study finds.

Genetics Influence Level of Depression Tied to Trauma Exposure, Study Finds

Researchers examine the interplay of trauma, genetics, and major depressive disorder in JAMA Psychiatry.

UCLA Team Reports Cost-Effective Liquid Biopsy Approach for Cancer Detection

The researchers report in Nature Communications that their liquid biopsy approach has high specificity in detecting all- and early-stage cancers.