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, ~2,600 publications are screened down to a curated, scored selection — over ~75,100 publications examined since launch.
This week on Geno'X
Four domains, one report per week each.
Eight families with Leber congenital amaurosis or early-onset severe retinal dystrophy carry a biallelic combination of six germline DDX41 variants; DDX41 encodes a DEAD-box RNA helicase involved in RNA splicing, innate immunity and hematopoiesis. Protein expression is decreased in fibroblasts from a patient homozygous for the c.1187T>C (p.Ile396Thr) missense variant and in the retina of Ddx41 I396T/I396T knock-in mice, whose electroretinograms show visual dysfunction from the first month of age. Biochemical assays indicate that the variants disrupt DDX41 interactions with RNA through misfolding or non-productive aggregates, resulting in loss of function. Transcriptomic profiling of mutant retinas points to Müller cells as the site of dysfunction, with widespread architectural disruption. This is a medRxiv preprint, not yet peer-reviewed.
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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