American Journal of Human Genetics 'Under Review': What Each Status Means

AJHG operates the Cell Press senior editor + associate editor model. AJHG is published monthly by Cell Press for the American Society of Human Genetics (ASHG). The senior handling editor reads the entire paper and evaluates human-genetics mechanism, statistical-genetics rigor, clinical-genetics relevance, and AJHG subspecialty routing across statistical genetics, population genetics, clinical genetics, functional genomics, and cytogenetics.

An associate editor at AJHG typically handles 30 to 60 manuscripts per year and spends 30 to 60 minutes on the initial read; AJHG associate editors are working academic human geneticists fitting AJHG editorial work around their own laboratories.

AJHG editorial culture is decisive: the 4-week first-decision target reflects Cell Press's rapid editorial response. Papers that pass the AJHG associate editor in-depth evaluation have cleared the steepest filter in Cell Press human genetics publishing.

Before the paper reaches external reviewers, an AJHG associate editor performs in-depth evaluation. All submissions are initially evaluated in depth by the editors; manuscripts that meet the general criteria for publication will be sent to at least 2 reviewers. About 50 to 60 percent of submissions are desk-rejected at this stage within 1 week.

A desk rejection most often means the associate editor concluded that the work would fit better at a sister Cell Press journal (Cell Genomics for top-tier genomics, Cell Reports for broader life-sciences) or at a sister human-genetics journal outside Cell Press (Genetics in Medicine for clinical genetics, European Journal of Human Genetics for European human genetics), or that the human-genetics mechanism bar is not met.

The AJHG editorial office confirms files are complete: manuscript with figures embedded, Supporting Information with human-genetics data (variant tables, statistical-genetics analyses, sequencing data), Cell Press template formatting, reporting checklists where applicable (STREGA for human genetic association studies, STREGA-AS for ancestry-stratified analyses), cover letter directed to the editor naming human-genetics mechanism contribution, conflict-of-interest declarations, ethics-statement documentation, IRB approvals, consent documentation, and data-availability statement (sequencing data deposition required).

The associate editor reads the paper in depth and evaluates human-genetics mechanism, statistical-genetics rigor, clinical-genetics relevance, and AJHG subspecialty routing. The in-depth evaluation distinguishes AJHG from journals that perform shorter desk screens.

In parallel with the associate editor's in-depth evaluation, ambiguous-fit papers are discussed across the Cell Press AJHG editorial team where peer associate editors weigh in on whether the paper would fit better at AJHG flagship or at sister Cell Press journals (Cell Genomics, Cell Reports). This editor consultation runs alongside the in-depth evaluation and adds 2 to 4 days to the timeline that is invisible to the author in the portal.

AJHG associate editors typically invite at least 2 reviewers, with reviewer recruitment typically taking 5 to 10 days. Reviewers agree in advance to assess the paper rapidly, which differentiates AJHG from journals that invite reviewers without rapid-assessment commitment.

Once 2 reviewers agree to rapid assessment, the typical AJHG peer-review cycle lasts 1 to 3 weeks per reviewer per Cell Press's 10-day reviewer target. Reviewers are asked to evaluate human-genetics mechanism, statistical-genetics rigor, clinical-genetics relevance, and reproducibility. Reviewer reports for AJHG tend to be focused; 1500 to 3000 word reports are typical given the rapid-assessment commitment.

After reports return, the associate editor synthesizes them. If revisions are a condition of publication, generally 4 weeks are allowed for revisions and only 1 revised version of the paper is considered. Total submission-to-acceptance commonly runs 3 to 6 months for successful papers, including revision rounds.

• Rejection within 1 to 3 days: Administrative issue or immediate scope mismatch.

• Rejection within 3 to 7 days: Associate editor in-depth evaluation desk rejection per the 50 to 60 percent figure.

• Still Under Review after 2 weeks: Strong signal. Paper passed the AJHG associate editor in-depth evaluation.

• Still Under Review after 8 weeks: Reviewer-recruitment or reviewer-report delay. A polite inquiry via the Cell Press Editorial Manager portal is appropriate.

• Status changes to "Decision Pending": Reports are in; expect a decision within 1 week.

This is the most common anxiety we hear from AJHG authors during the active editorial window. The honest answer: no, 4 weeks at Under Review puts you right at AJHG's 4-week first-decision target. Reports may already be in editorial synthesis with the associate editor preparing the recommendation. Most reviewer-driven delays come from reviewer-recruitment timing for human-genetics subspecialty experts willing to commit to rapid assessment rather than slow reviews.

If the portal still says Under Review at the 6-week mark, the most likely explanation is that one of the assigned reviewers asked for an extension and the associate editor granted it. This is normal practice at AJHG.

What you should NOT do during the 4-to-6-week window is email the editorial office. AJHG associate editors are working academic human geneticists managing 30+ active papers per year around their own laboratories; an inquiry at 4 weeks adds friction without accelerating the timeline.

If your AJHG paper is rejected after review, the natural cascade depends on what the reviewers and associate editor cited:

Cell Genomics is the natural Cell Press cascade for top-tier genomics. Cell Press supports manuscript-transfer via the portable peer-review system, preserving reviewer reports. Cell Genomics uses Editorial Manager at Editorial Manager submission portal; editorial contact cellgenomics@cell.com.

Cell Reports is the Cell Press cascade for broader life-sciences work.

Genetics in Medicine (Nature Portfolio) is the external Springer Nature clinical-genetics cascade. Genetics in Medicine uses the Nature submission portal; editorial contact gim@nature.com.

European Journal of Human Genetics (Springer Nature) is the external European human-genetics cascade.

Nature Genetics is the external Springer Nature top-tier genetics cascade. The Nature Genetics Manuscript Tracking System at mts-ng.nature.com handles submission; ng@nature.com handles publisher-level inquiries.

Genome Research is the external CSHL Press cascade for genomics.

HGG Advances is the AJHG sister Cell Press open-access cascade.

Cell Press asks reviewers at AJHG to evaluate four things specifically. The table below maps each to actionable preparation.

Across AJHG manuscripts, we see three patterns generate the most consistent reviewer concerns and the most common reasons papers miss the editorial bar or fail the desk screen. These are Manusights observations from human-genetics and genomics manuscripts prepared for AJHG-adjacent venues, not hidden Cell Press decision data.

Statistical-genetics rigor has to be visible before the reviewer audits it. AJHG-targeted drafts often contain the right analyses somewhere in the supplement, but the main text does not make multiple-testing correction, ancestry handling, cohort construction, power, and replication logic visible enough. Reviewers should not have to infer whether the analysis is properly controlled. The strongest papers make the statistical architecture legible in the abstract, Results, Methods, tables, and response plan.

Variant evidence fails when annotation, segregation, phenotype, and function are separated. A variant table that lists identifiers and predicted effects is not enough for many AJHG reviewer pools. The more persuasive package links ClinVar, gnomAD, segregation, phenotype harmonization, functional assay evidence, and uncertainty language so the reader can see why the variant matters and where the evidence stops. Weak submissions often overstate pathogenicity or mechanism before the evidence chain is complete.

The single-revision policy makes "we can fix it later" a bad plan. AJHG manuscripts have less room for incremental revision strategy than many journals. If reviewers ask for ancestry sensitivity analyses, replication, functional validation, or data deposition clarification, the first revision usually needs to be comprehensive. Stronger authors pre-build the likely response exhibits while the paper is Under Review instead of waiting for the decision letter.

The practical response plan should cover the manuscript, main tables, supplementary variant tables, phenotype definitions, cohort-flow diagram, sequencing repository record, analysis code, and any functional assay figures as one evidence system. We often see otherwise strong AJHG drafts lose force because the cohort description is in one place, the ancestry adjustment is in another, the variant evidence is in a supplement, and the clinical implication is introduced only in the Discussion.

A reviewer reading quickly should be able to trace each claim from patient or cohort definition to analysis method, variant interpretation, validation evidence, and data-access statement without reconstructing the study architecture.

Source limitation: Manusights cannot see private Cell Press reviewer assignments, queue state, or editor notes. This page combines official AJHG/Cell Press guidance, public timing/status information, and Manusights pre-submission review patterns; the Editorial Manager record remains the authority for your manuscript.

This page was created from Cell Press's public AJHG information for authors at Cell Press author instructions, Cell Press editorial documentation (4-week first-decision target, in-depth associate editor evaluation, at least 2 reviewers agreeing in advance to rapid assessment, single revised version only policy, 4-week revision window, Cell Press 10-day reviewer target), and Manusights pre-submission review experience with AJHG-targeted manuscripts.

Our review of AJHG-targeted manuscripts focuses on the manuscript, variant tables, cohort definitions, statistical methods, repository records, consent/IRB language, and revision-response plan authors actually need while a paper is Under Review.

For the human-genetics landscape beyond AJHG, start with the American Journal of Human Genetics submission guide, AJHG review time guide, and AJHG desk-screen guide.

For routing comparisons, see Nature Genetics under review, Cell Reports under review, and Genome Biology under review. The choice across these titles depends on whether the central contribution is top human-genetics mechanism, top genomics, broader life sciences, clinical genetics, European human genetics, or CSHL-style genomics.

Reviewers at AJHG typically draw from at least 2 human-genetics subspecialty experts (with rapid-assessment commitment) under the Cell Press single-blind model. Editors screen and triage manuscripts before any reviewer sees them through in-depth evaluation, and preparing a comprehensive revision response template is essential given AJHG's single-revised-version-only policy.

For a pre-upload check of your manuscript against the AJHG human-genetics-mechanism-plus-statistical-rigor bar before submission, our American Journal of Human Genetics pre-submission diagnostic flags the multiple-testing and replication weaknesses most likely to surface in reviewer reports.