Genetics

Modeling data suggests early metagenomic sequencing could reduce unnecessary testing and shorten time to diagnosis for CNS infections

The BioPathNet platform scans biomedical data networks to generate testable hypotheses that could support biomarker discovery and diagnostic development

Researchers present an innovative computational method based on modern mathematics to shed light on cell state dynamics and development

The study identified a nine-gene blood signature that consistently separated cerebral malaria from milder malaria and from healthy individuals

The method, called V2P, uses advanced machine learning to link genetic variants with their likely phenotypic outcomes

The annual “Nature’s 10” list captures how scientists pushed the boundaries of knowledge in 2025

Detecting all PML-RARA fusion isoforms in a single assay could help simplify the diagnostic workflow for acute promyelocytic leukemia

UF researchers find unreported security gaps in Oxford Nanopore’s portable sequencers

Results highlight the importance of routine cancer screenings, suggest genetic testing should go beyond high-risk groups

Current rapid genomic sequencing takes days, but critical NICU decisions often can't wait hours

Automated NGS reduces complexity and cost, enabling community hospitals to expand testing without major infrastructure investments

The National Comprehensive Cancer Network expands its interactive library of expert cancer care guidance to cover over a dozen cancer types and hereditary risk assessment

The work applies a method called local ancestry inference (LAI), which provides more accurate insights into genetic differences

Recommendations by multidisciplinary panel published in the Journal of Pediatrics leverage evidence-based approaches to accelerate diagnosis of familial hypercholesterolemia

MIT researchers have dramatically lowered the error rate of prime editing, a technique that holds potential for treating many genetic disorders

In preclinical models, the CRISPR-Cas9 gene therapy precisely repaired the genetic error that causes a rare vascular disease

AI model uses common data to gauge risk from rare genetic variants

Findings underscore the importance of matched tumor–blood sequencing to avoid diagnostic errors in oncology

Geneseeq’s CanScan® test demonstrated 93 percent early-stage detection and a 98 percent specificity rate in a 3,700-person cohort

The group of genetic conditions is still not widely recognized by healthcare providers, despite decades of research