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 ~15,300 publications examined since launch.
This week on Geno'X
Four domains, one report per week each.
Five-year evaluation of a pilot programme combining newborn screening for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) in 32,289 newborns in Liguria. A single multiplex PCR on dried blood spots detected *SMN1* exon 7 deletion and quantified TREC and KREC, with near-complete coverage and a low recall rate. Ten newborns were diagnosed: five with SMA (four treated presymptomatically with favourable outcomes, one death in SMA type 0) and five with immunodeficiencies, including two *ADA*-related SCID. No false negatives were observed during follow-up.
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
