Clinical genomics, read and reviewed for you
Every week, the most relevant publications in constitutional genetics, hereditary cancer, pharmacogenomics and bioinformatics — curated, scored against a public grid and reviewed by a medical biologist. Free, ad-free.
Every week, ~1,100 publications are screened down to a curated, scored selection — over ~21,300 publications examined since launch.
This week on Geno'X
Four domains, one report per week each.
Apparently pathogenic *TP53* variants found in blood may come from the germline or from somatic clonal expansions, which complicates risk interpretation. Using blood-derived whole-exome data from 469,391 UK Biobank participants, the authors combined variant allele fraction (VAF) with haplotype-sharing analysis to separate germline from somatic *TP53* variants. Germline variants clustered at sites linked to partial loss of p53 function and lower penetrance, whereas classic Li-Fraumeni alleles appeared to be predominantly somatically acquired. Classic alleles at high VAF carried a markedly increased risk of haematological malignancy but not of solid tumours, reflecting the contribution of large *TP53*-mutant clonal expansions. The prevalence of clonal expansion correlated with missense variant pathogenicity, so somatic activity provides an informative in vivo proxy for functional impact.
The watch in numbers
Selection funnel, score distribution, most-covered genes — the full curation mechanics, in the open.
Explore the watch in numbersHow it works
1. Exhaustive collection
Every week, PubMed, around a hundred specialty journals and bioRxiv/medRxiv preprints are screened across all 4 domains.
2. Transparent scoring
Each article is scored out of 10 against a public 5-criteria grid — clinical impact first. The score breakdown is shown on every article page.
3. Signed expert analysis
Every selected article is read and reviewed by a medical biologist: bilingual FR/EN summary and critical perspective — no black-box generated digest.
The full scoring grid is public: see the methodology.
Who is behind Geno'X?
Geno'X Veille is published by Dr Thibaut Benquey, a medical biologist specializing in constitutional genomics (WGS/WES) — from rare disease diagnosis to the clinical applications of next-generation sequencing. Every article is personally curated, scored and reviewed: no mass-generated content, no black box.
Follow on LinkedInWhy it's free
Geno'X Veille is a personal project — no ads, no sponsors, no sponsored content. No data is ever sold. The goal isn't commercial: it's to make clinical-genomics literature monitoring accessible to the whole community — biologists, geneticists, residents, genetic counsellors.
If you find the project useful, you can support hosting and curation time via Ko-fi — entirely optional.
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