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, ~1,200 publications are screened down to a curated, scored selection — over ~24,300 publications examined since launch.
This week on Geno'X
Four domains, one report per week each.
Glycogen storage disease type Ia is a rare, life-threatening inherited disorder of carbohydrate metabolism caused by biallelic pathogenic *G6PC* variants leading to glucose-6-phosphatase deficiency. DTX401-CL301 is a pivotal phase 3, double-blind, randomized, placebo-controlled trial in patients aged 8 years and older, with the percent change from baseline to Week 48 in daily cornstarch intake as the primary endpoint. Twenty-one participants received DTX401 and 25 received placebo after 1:1 randomization. At Week 48, the least squares mean reduction in daily cornstarch intake was 41% (SE 4.6) with DTX401 versus 10% (SE 4.1) with placebo (p < 0.0001), against a mean desired reduction of 45% (median 41%) reported by patients themselves at baseline interviews (n = 33). Reductions were greater and faster by Week 96 in the group that received DTX401 after crossover, and the expected hepatic reactions, transaminase elevations, were managed with prophylactic corticosteroids.
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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