--- name: nature-genetics description: Use when targeting Nature Genetics or deciding whether a genetics/genomics manuscript fits this venue. Encodes the journal's fit, framing, method-and-evidence bar, house style, official-submission re-check, and desk-reject heuristics. --- # Nature Genetics (nature-genetics) ## Journal positioning Nature Genetics is the Nature Portfolio's flagship genetics and genomics journal, publishing studies that advance understanding of the genetic basis of biological processes or disease — either through population-scale genomic discovery (GWAS, whole-genome sequencing, multi-ancestry analyses) or through functional genomics that mechanistically interprets genetic variation. The defining editorial expectation is that a discovery at the genomic or genetic level must be either exceptionally large in scale and rigorously interpreted, or paired with functional mechanistic follow-through that converts a statistical association into biological insight. The readership spans geneticists, genomicists, computational biologists, and disease biologists. This skill is a **fit / venue-selection / re-framing** tool. It does not replace the journal's current official submission guidelines. Before submitting, re-check the live author instructions on the Nature Portfolio site or submission system. ## When to trigger - The author names Nature Genetics as the target venue. - A GWAS, multi-ancestry genomics, or large-scale sequencing study is assessing whether its scale and biological interpretation meet the bar. - A functional genomics study (CRISPR screens, eQTL mapping, chromatin architecture, regulatory element dissection) needs to assess its significance level. - The author is choosing between Nature Genetics, Nature Human Genetics, American Journal of Human Genetics, or a disease-specific journal. ## Scope & topic fit - Population genetics and complex trait genomics: large-scale GWAS, multi-ancestry meta-analyses, polygenic architecture, heritability partitioning — when the biological interpretation is substantive, not merely incremental. - Functional genomics and gene regulation: eQTL, sQTL, chromatin accessibility, 3D genome organization, regulatory element function — interpreted mechanistically or in disease context. - Rare-variant discovery in cohorts or families: Mendelian disease gene identification or de novo variant studies when the biology is novel and the phenotyping is rigorous. - Somatic genetics and cancer genomics: mutational signatures, driver gene discovery, clonal dynamics — at population or multi-tumor scale. - Single-cell genomics applied to genetic or epigenomic questions: cell-type-specific eQTLs, single-cell ATAC-seq in genetic context — when the genetic question drives the analysis. - Evolutionary and population genetics: demographic inference, selection scans, admixture — when the finding reframes human or organismal genetic history significantly. ## Method & evidence bar - Scale is a distinguishing feature: GWAS and multi-ancestry studies must be sufficiently powered and must go beyond listing loci to interpreting functional and biological mechanisms. - Functional follow-through is increasingly expected: statistical genomic discoveries should be accompanied by experimental validation (reporter assays, allele-specific expression, CRISPR perturbation, animal model) or by strong computational evidence linking variants to regulatory mechanism. - Computational methods and statistical rigor: appropriate multiple-testing correction (genome-wide significance thresholds), LD score regression, conditional analyses, and fine-mapping; inflated signals must be addressed. - Diversity and ancestry: multi-ancestry analyses are the current standard; single-ancestry studies should justify scope and acknowledge limitations. - Data sharing: GWAS summary statistics, individual-level data access agreements, and code deposition are expected; Nature Portfolio reporting summary required. - Reproducibility: replication cohorts or independent functional validation strengthens genomic discovery claims. ## Structure & house style - Nature Portfolio format: unstructured abstract (re-check the current length limit); main text with no mandatory STAR Methods equivalent, but Methods section must be complete and well-organized. - Extended Data figures (up to 10 typically; re-check current limit) carry additional analyses; Supplementary Information carries large tables, code, and extended methods. - Nature reporting summary required (all Nature Portfolio research journals); covers study design, statistics, data sharing, and field-specific reporting. - Titles should be informative and accessible to a broad genetics audience; avoid highly technical jargon. - The introduction establishes the genetic question and its significance; the contribution is stated explicitly and distinguished from previous GWAS or functional genomics studies. - Data/code availability statement required; summary statistics should be deposited to GWAS Catalog or equivalent. ## Official-submission checklist - Before giving submission-ready advice, read `../../resources/source-basis.md` and `../../resources/official-source-map.md`; start from the official source anchors for this journal family, then cite the current journal-specific page you checked. - Search "Nature Genetics author information" on the Nature Portfolio site and follow the current version. - Re-check article types (Article vs. Brief Communication vs. Letter — format names may have changed; re-check), length and figure limits, and Extended Data policy. - Confirm Nature reporting summary requirements and any genetics-specific checklists (e.g., ARRIVE for animal studies, human-subjects consent). - Re-check data availability requirements: GWAS Catalog deposition, SRA/dbGaP for raw sequencing, code on GitHub/Zenodo. - Verify competing-interests, funding, and AI-use disclosure requirements. - Confirm preprint policy and open-access/APC options. - Re-check the current multi-ancestry and diversity reporting expectations. - If the live official instructions conflict with this skill, the official instructions win. ## Pre-submission self-check - [ ] One sentence stating the genetic or genomic principle established and its significance beyond the immediate trait or disease. - [ ] The advance goes beyond locus discovery: functional or mechanistic interpretation is substantive. - [ ] Multi-ancestry representation and population diversity are addressed in the study design and limitations. - [ ] Multiple-testing, LD, and confounding are handled appropriately; genome-wide significance thresholds are applied. - [ ] GWAS summary statistics or equivalent data are ready for deposition; code is documented and deposited. - [ ] Nature reporting summary is prepared; data/code availability statement is complete. ## Common desk-reject triggers - A single-ancestry GWAS that identifies loci already known or trivially close to known signals, with no functional interpretation. - Functional genomics study (chromatin, eQTL) without a clear genetic question or disease connection and insufficient scale for Nature Genetics significance. - Computational genomics tool paper where the primary advance is the method, not the biological discovery — better suited to `nature-methods` or `genome-biology`. - Clinical genetics study (variant classification, population prevalence of a Mendelian condition) below the discovery significance threshold — better suited to American Journal of Human Genetics or Genetics in Medicine. - Analyses with inflated genomic signals (lambda inflation unaddressed), inadequate multiple-testing correction, or missing replication in independent cohorts. ## Re-routing decision - Strong genetic discovery in a specific disease area with clinical implications → `nature-medicine` (if translational impact is primary) or a disease-specific journal. - Excellent functional genomics or gene-regulation study → `nature-cell-biology` (if cell biology is primary) or `molecular-cell` (if molecular mechanism dominates). - Large-scale genomics below Nature Genetics significance → `nature-communications`, `genome-biology`, or `plos-genetics`. - Methods-first genomics tool with biological application → `nature-methods` or `genome-biology`. ## Output format ```text [Fit] High / Medium / Low (one-line reason) [Target] Nature Genetics [Topic tags] <2–3 closest topics> [Method/evidence] [Top risk] [Official items to re-check]
[Re-route suggestion] ```