Geno'X
Weekly bibliographic watch on constitutional genetics.
Our mission
Constitutional genetics literature moves every week — new genes, new mechanisms, phenotypic expansions, functional analyses, cohort data. For a medical biologist, a clinical geneticist, a trainee or a researcher, keeping up represents significant time that day-to-day clinical practice rarely allows.
Geno'X publishes every Wednesday a commented selection of the week's key publications, in a format designed for fast reading: relevance score, classification (new gene, expansion, mechanism, etc.), summary, analysis, and a direct link to the source.
Who writes Geno'X?
Geno'X is a single-owner consulting and expertise company in constitutional genetics, led by Dr. Thibaut Benquey, a medical biologist specialising in constitutional genetics. His approach is generalist in whole genome and exome analysis: a broad practice of constitutional molecular diagnostics, spanning the full spectrum of clinical indications without restriction to a single subspecialty. The weekly selections, summaries and analyses published here are written personally — they reflect a single professional reading, not the position of an institution. Corrections, suggestions and technical exchanges are welcome.
Methodology
Scoring scheme (out of 10) — all domains
Each article receives a score between 0 and 10, computed from 6 criteria identical across all 4 domains. Clinical impact is the primary criterion (+3 max), followed by strength of evidence (+3 max) and novelty (+2 max).
- Clinical impact (0–3)Primary criterion. +3: changes practice immediately (addable to panel, CPIC A dose recommendation, deployable tool). +2: likely impact in the short term. +1: indirect contribution. 0: fundamental interest only.
- Strength of evidence (0–3)+3: robust causality (functional + multi-family segregation, or large prospective cohort, or RCT). +2: good evidence (quality functional alone, or cohort ≥10 families/≥100 patients). +1: partial evidence. 0: preliminary data or single case report.
- Novelty (0–2)+2: unprecedented element (new Mendelian gene, new CPIC A/B interaction, breakthrough tool). +1: significant extension (phenotypic expansion ≥2 cases, VUS→P/LP reclassification, major replication). 0: minor replication or narrative review.
- Cohort size / robustness (0–1)+1 if: ≥5 confirmed independent cases, ≥100 genotyped patients, cohort ≥1000, open-source code (bioinformatics), or meta-analysis ≥5 studies. 0 otherwise.
- Journal quality (0–1)Peer-reviewed journal with impact factor consistent with the specialty (Nat Genet, Am J Hum Genet, Genet Med, Hum Genet, Clin Genet, EJHG, JMG, etc.).
- Preprint penalty (−1)bioRxiv/medRxiv preprints not yet peer-reviewed receive a −1 to reflect uncertainty on methodological robustness. A preprint is still included if it carries major information.
Theoretical maximum: 10/10. Inclusion threshold: ≥5/10. Target median: 5–6/10.
Inclusion and exclusion criteria
Beyond the score, qualitative criteria also decide whether an article enters the final selection.
constitutional genetics (rare diseases across all specialties), constitutional pharmacogenetics, genetics of fertility and reproduction, Mendelian susceptibility to infections or cancers, review articles of practical interest for molecular diagnosis.
somatic oncogenetics (acquired tumor mutations), pure population genetics without clinical impact, epidemiology without molecular dimension, articles not indexed by PubMed or with no accessible abstract.
Limits & known biases
The score and the selection reflect human curation. For transparency, here is what the format does not capture.
- —The score does not evaluate external reproducibility of the study. An article scoring 9/10 at release may be contradicted later by independent data.
- —Bias towards English-language literature indexed in PubMed, bioRxiv and medRxiv. Publications in other languages are not systematically included.
- —Human curation: the curator's areas of expertise (here: neurogenetics, infertility, ophthalmogenetics, cardiogenetics) likely receive more attention than other areas.
- —Preprints are penalized but still included if they carry major information — the penalty reflects uncertainty, it does not eliminate content.
- —Rolling 7-day window, with possible catch-up up to ~45 days for articles indexed late in PubMed. A physically earlier publication may therefore appear in a later week's watch than its actual publication date.
Copyright & content
The summaries presented are original syntheses. Publishers' copyrighted abstracts are not reproduced verbatim — a direct link to the source publication is always provided to access the full abstract at the publisher.
Analyses are professional opinions for informational purposes and do not constitute individual medical advice.
Support the project
Weekly curation, site development and hosting cost time and money. If Geno'X is useful to you and you wish to support its development, you can do so via our Ko-fi page. Content remains fully accessible to all.
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