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

The near-complete HG002 assembly provides a high-accuracy diploid benchmark to improve clinical diagnostics.

Jesy Nelson Denies TOWIE Casting Claims

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

World Hemophilia Day 2026 Puts Diagnosis Front and Center

UK Brings Forward SMA Newborn Screening to October 2026 With Partial Rollout

Brazil’s SUS Rolls Out Whole‑Exome Sequencing to Speed Rare‑Disease Diagnosis

Angelina Jolie Reveals Mastectomy Scars on Time France Cover to Urge Breast-Cancer Prevention

RPS6KC1 Mutations Identified as Cause of Ultra-Rare Neurodevelopmental Disorder

UCLH Becomes First NHS Trust to Offer ROCA Surveillance for BRCA-Linked Ovarian Cancer

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

Global Team Releases Most Complete Human Pangenome and Maps 175,000 Structural Variants

Eight Healthy Babies Born Through UK Three-Parent IVF, Study Shows

Galicia Unveils €400 Million Rare Diseases Strategy to Cut Diagnosis Times by 30%

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

Proteomic Test Cuts Childhood Rare Disease Diagnosis to Under Three Days

NICE Approves Capivasertib for NHS Use in Advanced Breast Cancer Treatment

At-home spit test for prostate cancer outperforms PSA blood test in trials

23andMe Bankruptcy Fuels Data Privacy Concerns as Deletion Requests Surge