• Machine Learning Penetrance Score Predicts Genetic Variant Impacts

    Bio-IT World | Researchers at the Icahn School of Medicine at Mount Sinai have published a machine learning model to predict penetrance of genetic variants—how likely the variants are to cause disease. The tool combines genomic and clinical phenotype data to evaluate penetrance at scale, offering refined, individualized disease risk estimates. The study was published last week in Science (DOI: 10.1126/science.adm7066).

    Sep 2, 2025

  • Ultima’s ppmSeq Pushes Sequencing to New Levels of Accuracy

    Bio-IT World| Ultima Genomics unveiled updates on the single-nucleotide variant (SNV) detection capabilities of its plus-minus sequencing (ppmSeq) technology, which were published at bioRxiv. The updates elaborate beyond the limits of currently available minimal residual disease assays.

    Aug 28, 2025

  • Follow the Money: Rheumatoid Arthritis Therapy, Novel Next-Gen Biosensor, More

    Bio-IT World| SetPoint Medical will advance commercialization of the SetPoint System, a first-of-its-kind neuroimmune modulation therapy for adults living with moderate-to-severe rheumatoid arthritis; Sava Technologies plan to accelerate regulatory approval and commercialization of its next-generation wearable; and more.

    Aug 27, 2025

  • BioMed X, Novo Nordisk Collaboration, 10x Genomics Launches Platform Addition, More

    Bio-IT World| BioMed X announced the launch of a new collaboration with Novo Nordisk; 10x Genomics launched Xenium Protein, a new addition to its Xenium Spatial platform; and more.

    Aug 26, 2025

  • Bioprocessing Summit Honors LISURE as Best of Show Winner

    Bio-IT World | During this week’s Bioprocessing Summit in Boston, M++ UltraPilot from LISURE was named the winner of the Best of Show People’s Choice Award competition. Other finalists and their products were also named and featured.

    Aug 21, 2025

  • Family-Based Genomics Benchmark Promises More Accurate Variant Detection

    Bio-IT World | A multi-generational family tree is helping researchers dramatically improve the accuracy of genomic variant calling, according to a new study published in Nature Methods. The research, led by scientists at Pacific Biosciences, introduces a comprehensive benchmarking dataset that could reshape how genomic technologies are trained and validated.

    Aug 20, 2025

  • Nature’s Most Promising Bioactives to Speed Up Evidence-Based Drug Discovery

    Bio-IT World | Natural products and medicines mimicking substances found in nature have been used clinically for well over 100 years and could help remedy what ails today’s alarmingly long and relatively unproductive drug discovery process. Since bioactive substances from natural resources have a track record of use against disease, they are a compelling starting point for evidence-based discovery of novel human therapies.

    Aug 19, 2025