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, ~900 publications are screened down to a curated, scored selection — over ~16,400 publications examined since launch.
This week on Geno'X
Four domains, one report per week each.
Neurofibromatosis type 1 (about 1:3,000) is classically assumed to follow strict Mendelian transmission. The authors analysed transmission patterns in 322 *NF1* families from four well-characterised cohorts, using strict inclusion criteria to minimise ascertainment bias and exclude possible mosaic cases. Among 701 offspring, 61.1% were diagnosed with *NF1*, significantly exceeding the expected 50% (p = 5 × 10-9), with the excess present for both female (62.8%) and male (58.5%) transmitters. Sub-sampling and large-scale random down-sampling analyses ruled out cohort size and other confounders as an explanation. The authors propose clonal selection of *NF1*-null cells within the early embryonic germline, with implications for genetic counselling and prenatal diagnosis.
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.
Support on Ko-fiEvery Wednesday · Annotated selection · Free · Unsubscribe anytime
