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Genetics news

Cross-source consensus on what matters today in genetics and genomics — drawn from 16 trusted public sources including NHGRI, the CDC, NHS England, Genomics England, the PHG Foundation, the Wellcome Sanger Institute, and peer-reviewed open-access journals.

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Preprint · not peer-reviewed Researchers · Genetic Counsellors · Educators

Preprint: mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes at residue level

A yeast-complementation deep mutational scan of nearly all XPD amino acid substitutions separates ERCC2 variants that disrupt nucleotide excision repair from those that disrupt transcription, offering a functional framework for interpreting pathogenic variants in xeroderma pigmentosum and trichothiodystrophy.

2026-09-28 · 1 source · bioRxiv (Cold Spring Harbor Laboratory)
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Preprint · not peer-reviewed Researchers · Genetic Counsellors · Educators

Preprint: somatic NF1 second-hit mutations show strong clonal selection in oligodendrocyte lineage cells

A large-scale single-cell genomics preprint spanning over 1.7 million cells from neurofibromatosis type 1 donors finds that somatic second-hit mutations in NF1 occur widely but are positively selected almost exclusively in oligodendrocytes and their precursors.

2026-10-01 · 1 source · bioRxiv (Cold Spring Harbor Laboratory)

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About Genetic Current

Educational summaries of public genetics news

Genetic Current is the news section of Evagene, an academic, research, and educational pedigree-modelling platform. Stories are AI-drafted summaries of items from trusted public sources, written for researchers, clinicians, educators, students, genealogists, and patients with an interest in genetics. Summaries are for educational and research purposes only and are not medical advice.

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