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Khabre desk
Recent reporting, analysis and explainers from the Genetics desk.
health
A bioRxiv preprint reports a ClinVar-derived AlphaGenome Variant Impact quantile cutoff of 0.9938 for prioritising single-nucleotide variants. Nearly half of the uncertain variants assessed exceeded that threshold, but the result is a prioritisation signal, not a clinical reclassification.
health
A Nature Medicine correspondence argues that debate over polygenic scores in England’s NHS depends partly on what prevention is meant to achieve. The authors say risk thresholds, outcome measures and comparators shape how the evidence is judged.
health
A genome-wide association study of 140,559 adults from the Mexico City Prospective Study identified 78 independent signals for systolic blood pressure and hundreds more for other blood pressure traits, including variants rare in other populations.
health
Whole-genome sequencing of 7,851 parent–offspring families linked distinct assisted reproductive technology procedures and parental age with de novo mutations associated with gestational duration and other birth outcomes.