Geno'X
Genetic watch

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 points)

Each article receives a relevance score between 0 and 10. The score is computed from objective, documented criteria below. It is used to prioritize reading but does not prejudge the clinical relevance of each article in a given context.

  • New gene (+3)
    The article identifies a gene not previously associated with the disease, with a demonstration of causality (familial segregation, independent multi-case, or functional proof).
  • Strong mode of inheritance (+2)
    De novo variants confirmed by trio analysis (NDD, congenital malformations), or biallelic confirmed for recessive inheritance. Cases where the mode is merely inferred without confirmation do not receive this bonus.
  • Functional analysis (+2)
    In vitro experiments (reexpression, knock-out, knock-down), animal models (mouse, zebrafish), organoids, or iPSCs with reproducible results. A purely bioinformatic argument (AlphaMissense, CADD) does not count as functional analysis.
  • Significant cohort size (+1)
    Cohort ≥ 5 confirmed independent cases, or pangenomic cohort ≥ 1000 participants. Isolated case reports do not receive this bonus.
  • Immediate clinical impact (+1)
    Gene addable to an existing diagnostic panel, recurrent variant to watch, genotype-phenotype correlation useful for genetic counselling, or direct therapeutic implication.
  • Journal quality (+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.
Inclusion threshold: articles with a score ≥ 5 are systematically presented in the weekly watch. Articles with a score of 3–4 may be included if the topic is exceptionally rare or if no other article exists that week in an important subdomain. Below 3, the article is not retained.

Theoretical maximum: 10/10. Observed median: 6–7/10.

Inclusion and exclusion criteria

Beyond the score, qualitative criteria also decide whether an article enters the final selection.

Included

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.

Excluded

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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Contact & feeds

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