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AI-Driven Analysis Links BRSK1 Variants to New Neurodevelopmental Syndrome

Model organism experiments show patient variants partly reduce BRSK1 activity, suggesting microtubule disruption as a likely mechanism.

T2T Consortium Delivers First Telomere-to-Telomere Phased Diploid Human Genome

MutationProjector AI Predicts Cancer Therapy Response from Tumor Mutations

Jackie Tohn Goes Public With BRCA1 Status, Says Test Led to Preventive Double Mastectomy

Nature Study Identifies X-Linked Noncoding RNA Tied to Core Autism Traits in Males

Mount Sinai Team Publishes AI ‘Penetrance’ Scores to Gauge Disease Risk From Rare Variants

Wojcicki’s Nonprofit Tops Regeneron With $305M Bid for 23andMe

Proteomic Test Cuts Childhood Rare Disease Diagnosis to Under Three Days