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, ~2,100 publications are screened down to a curated, scored selection — over ~59,200 publications examined since launch.
This week on Geno'X
Four domains, one report per week each.
This Chinese case series (4 tertiary referral hospitals of the China Alliance for Rare Diseases) combines exome sequencing, imaging and plasma lipidomics in patients with unexplained spastic paraplegia and white matter hyperintensities. Twenty-six individuals from 11 unrelated families carry recurrent heterozygous PLAAT4 variants (p.I14T and p.A96V), associated with a novel autosomal dominant leukoencephalopathy named SPDMLS. Onset ranges from 11 to 51 years (median 22 years), with predominant spastic paraplegia and, on MRI, a symmetric long-segment "girdle-like" spinal cord hyperintensity with atrophy; in presymptomatic carriers, spinal cord changes precede brain involvement. An oligodendrocyte-specific knock-in mouse model supports a role for PLAAT4 gain of function in demyelination, and accumulation of arachidonic acid-related plasma lipids correlates with disability stage.
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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