The American Journal of Human Genetics

About The American Journal of Human Genetics

About The American Journal of Human Genetics

The American Journal of Human Genetics (AJHG) is the official journal of the American Society of Human Genetics (ASHG) and one of the oldest and most influential journals in human genetics. It is a monthly peer-reviewed scientific journal published by Cell Press, an imprint of Elsevier, on behalf of the Society. The journal was established in 1948 by the ASHG, and its first issue — Volume 1, Issue 1 — appeared in September 1949. Its registered identifiers are ISSN 0002-9297 (print) and ISSN 1537-6605 (online); its ISO 4 abbreviation is Am. J. Hum. Genet., its CODEN is AJHGAG, and its NLM catalogue identity is one of the longest-standing in biomedical publishing. The Journals World record for this title lists the publisher as Elsevier BV, which is correct at the corporate level: the journal is produced by Cell Press, and Cell Press is part of Elsevier.

The journal's own statement of purpose is precise: AJHG "provides a record of research and review relating to heredity in humans and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology." That sentence, carried on the journal's ScienceDirect insights page, has framed the journal for decades. AJHG is where new disease genes are announced, where methods for analysing human genetic variation are introduced, and where the field debates the clinical and social consequences of its own discoveries.

Quick Facts

History

The journal's founding in 1948 coincided with the founding generation of human genetics as an organised discipline. The American Society of Human Genetics was itself young, and its journal gave the field a dedicated home at a time when human heredity research otherwise appeared scattered across general medical and biology journals. Publication began quarterly in 1949, became bimonthly from 1965 to 1985, and has been monthly since 1986 — a progression that mirrors the growth of the field from a small community mapping inheritance patterns in families to a data-rich science built on genome sequencing.

For most of its life the journal was published in association with a university press; the modern era began in January 2008, when the ASHG chose Cell Press to publish the journal. The move was notable enough for Cell Press to remark on it at the time: AJHG was its first society-owned journal, joining a list that included Cell, Molecular Cell, Current Biology and Immunity. The arrangement combined the Society's ownership and scientific direction with Cell Press's publishing platform and, later, the ScienceDirect distribution system. Bruce R. Korf, a clinical geneticist, became editor-in-chief in the winter of 2017–2018 and leads the journal's editorial direction in the period covered by this profile.

The journal's archive is a history of human genetics in miniature. Its most-cited papers include the PLINK paper — Purcell and colleagues' 2007 tool set for whole-genome association and population-based linkage analyses, which became standard software for genome-wide association studies and has been cited more than twenty thousand times according to aggregator counts — the statistical method for haplotype reconstruction from population data by Stephens and colleagues, and the 1980 Botstein paper on constructing a genetic linkage map in humans using restriction fragment length polymorphisms, a foundational text of the genomics era. A journal that published both the linkage-map era and the GWAS era, and remains a first-choice venue in the sequencing era, occupies a distinctive place in the discipline.

Scope and Article Types

AJHG publishes research and review across heredity in humans. Topics named in its aims and scope include behavioral genetics, biochemical genetics and clinical genetics, and the journal's coverage extends across molecular genetics and genomics, population and evolutionary genetics, genetic epidemiology, functional studies of genetic variants, and the ethical, legal and social implications of genetics research. In practice, a typical issue combines reports of newly identified disease genes and variant interpretations, methodological advances for variant analysis and association testing, population-genetic studies of human history and diversity, and clinical studies that change how genetic conditions are diagnosed or managed.

Article types include original research articles, reviews, commentaries and editorials. The journal places weight on studies that combine innovative methodology with robust data and broad implications for human health, and it encourages reproducibility and transparency, including deposition of data and code in repositories where applicable. As the ASHG's journal, it also serves as a forum for the community's professional life: society statements, policy discussion and education-related commentary appear alongside the research record, giving the journal a role in how the field presents itself to medicine and to the public.

Metrics, Indexing and Standing

On its ScienceDirect insights page, the publisher lists a CiteScore of 12.5 and an Impact Factor of 7.7 for the journal; readers should note that third-party trackers republish these series with a lag and sometimes show values from an earlier release — figures around 8.1 were widely listed for the journal in the preceding cycle. SCImago's data, as republished by journal-metric services, give the journal an h-index of 348 and an SJR of 4.204, with Q1 rankings in both Genetics and Genetics (Clinical). An h-index of that size — accumulated over more than seven decades of publication — reflects the journal's back catalogue as much as its current output: hundreds of its papers have each been cited hundreds of times.

The journal is indexed in Scopus, MEDLINE and PubMed Central according to its publisher, and in the Science Citation Index Expanded according to its indexing listings. For authors, the practical consequences are visibility in PubMed searches, inclusion in the citation databases used by institutions for evaluation, and a readership that extends well beyond genetics departments into clinical medicine, because so much of the journal's content bears directly on diagnosis and care.

Publishing Model and Author Information

AJHG operates a hybrid model. The subscription route carries no publication fee for authors, and published articles are immediately available to subscribers. Authors who need or prefer open access may choose it for an article publishing charge listed by the publisher at USD 5,150 excluding taxes, subject to reduction where an institutional agreement applies. The publisher's listed timelines are fast at the first step — three days from submission to first decision, reflecting rapid editorial triage — and 148 days from submission to acceptance for papers that complete peer review and revision. Those figures are publisher-reported aggregates, not guarantees for any individual manuscript, and authors should read them as an indication of the journal's workflow rather than a promise.

Competition for space is real. The journal's standing means it receives far more strong submissions than it can publish, and desk rejection of sound but insufficiently broad or novel work is common. Prospective authors should study recent issues for fit: papers that succeed typically identify a gene, mechanism or method of clear general importance, support it with rigorous human data, and address the implications for medicine or for understanding human biology. Authors should follow the journal's current guide for authors on the Cell Press site for formatting, reference style, data-availability requirements and article-type definitions, since those details are updated by the publisher and supersede any summary here.

The Journal and the Society

Ownership by the American Society of Human Genetics shapes the journal's character. Society journals answer to a scholarly community rather than only to a publisher's list, and AJHG's pages reflect the ASHG's mission to advance human genetics in science, health and society. Editorials and commentaries address questions the research community must collectively answer — consent and data sharing for genomic data, return of results to research participants and patients, diversity in genomic cohorts, and the clinical translation of polygenic and sequencing technologies. For readers who want to understand not only what human genetics has discovered but how the field governs itself, the journal is a primary source.

How to Verify This Title

Verification is straightforward. The ISSN pair 0002-9297 and 1537-6605 identifies the journal in the ISSN system and in the NLM catalogue; the ScienceDirect journal page confirms the publisher (Cell Press), the subject areas (Genetics and Molecular Biology), the indexing services and the current metrics; and the ASHG's own site confirms the journal's status as the Society's official journal. Do not confuse this journal with the similarly named Journal of Human Genetics, a separate title published in Japan, or with Human Genetics, a separate Springer title: the word "American" and the ISSN pair are the reliable identifiers.

Frequently Asked Questions

What are the ISSNs of The American Journal of Human Genetics? Print ISSN 0002-9297 and online ISSN 1537-6605.

Who owns and who publishes the journal? The American Society of Human Genetics owns it; Cell Press, an Elsevier imprint, has published it on the Society's behalf since January 2008.

When was it founded? The journal was established in 1948 and its first issue appeared in September 1949. It has been published monthly since 1986.

What metrics does it report? The publisher's insights page lists a CiteScore of 12.5 and an Impact Factor of 7.7; SCImago-derived listings give an h-index of 348 and Q1 status in Genetics and in Genetics (Clinical).

Is it open access? It is a hybrid journal: subscription publication carries no author fee, and an open-access option is offered at a publisher-listed charge of USD 5,150 excluding taxes.

Where is it indexed? Scopus, MEDLINE, PubMed Central and the Science Citation Index Expanded.

Who is the editor-in-chief? Bruce R. Korf, who took up the role in the winter of 2017–2018.

Research Themes and Landmark Content

Three threads run through the journal's modern archive. The first is disease-gene discovery: AJHG is a natural home for papers that identify the genetic cause of an inherited condition, establish its mechanism, and show how the finding changes diagnosis or care. The second is method-making. Human genetics advances through shared tools, and the journal's most-cited papers are methods: the PLINK software paper by Purcell and colleagues (2007) gave the field its standard workbench for whole-genome association and population-based linkage analysis; the haplotype-reconstruction method of Stephens and colleagues gave it a standard way to infer phase from population data; and the Botstein group's 1980 paper on building a human genetic linkage map from restriction fragment length polymorphisms supplied the conceptual plan that the following two decades executed. The third thread is interpretation: as sequencing moved into clinics, the journal filled with work on variant classification, penetrance, population allele frequencies and the return of results — the connective tissue between raw genomic data and medical decisions.

Population and evolutionary genetics form a fourth, quieter thread. Studies of human migration, admixture and selection appear in the journal alongside clinical work, reflecting the ASHG's breadth and the journal's own scope statement, which reaches from molecular and cell biology to public policy. Commentary on the ethical, legal and social implications of genetics is not decorative: in a field whose findings can affect insurance, reproduction, ancestry testing and forensic practice, the journal's willingness to publish analysis and society guidance alongside data papers is part of its function.

Editorial Standards

Manuscripts are handled through the Cell Press editorial system and assessed by the journal's editors with expert peer review; the publisher's three-day average to first decision indicates that many manuscripts are resolved at editorial triage, before external review, which is normal for a journal of this selectivity. Papers that proceed are expected to meet the journal's standards for statistical rigour in genetic analysis, appropriate consent and ethical approval for human research, and data and code availability sufficient for others to verify and build on the work. The journal's emphasis on reproducibility — encouraging deposition in recognised repositories — reflects hard lessons from the candidate-gene era, when underpowered association claims littered the literature of many journals; AJHG's current standards are designed to keep its record cleaner than that era's.

For clinicians, the journal's content carries a further quality signal: because it is the ASHG's journal and is indexed in MEDLINE and PubMed Central, its clinical genetics papers are visible where practising physicians and clinical laboratory scientists actually search. Gene–disease relationships established in its pages feed into the curated knowledge bases that diagnostic laboratories rely on, which is one reason authors compete to place definitive disease-gene papers here despite the demanding review process and the 148-day average journey from submission to acceptance that the publisher reports.

AJHG in the Genomics Era

The journal's recent decades track the field's technological turns. The linkage era gave way to genome-wide association studies in the 2000s — the era of the PLINK paper — and then to exome and genome sequencing in the 2010s, which turned disease-gene discovery from a craft of individual laboratories into an industrial-scale, consortium-driven activity. AJHG adapted its content accordingly: large collaborative studies, gene-matching reports that connect a candidate gene to a patient cohort, and statistical frameworks for interpreting variation at population scale all became staples. The journal's ASHG setting also made it a venue for the profession's collective responses to new capability — guidance as clinical sequencing spread, debate over incidental findings, and analysis of how ancestry and representation in reference data affect the accuracy of genetic medicine. A reader sampling one issue per decade from 1949 to the present would hold a compressed history of how humans learned to read their own heredity.

That continuity is also the answer to the question authors most often ask about the journal: what distinguishes an AJHG paper from a good specialty paper? The pattern across its landmark content is generality — a gene, method or principle that changes practice or understanding beyond a single family, cohort or laboratory — supported by human evidence strong enough to carry the claim. Papers that clear that bar join an archive whose h-index of 348 testifies to how often the field has built on what the journal published; papers that fall short, however competent, are routinely redirected by the editors to the many specialty genetics journals that now share the field the ASHG's journal once had almost to itself.

How Readers Use the Journal

Different readers come to AJHG for different things, and the journal is organised to serve all of them. Research geneticists read it for gene discoveries and methods they will use in their own analyses. Clinical geneticists and genetic counsellors read it for the variant and disease evidence that underpins diagnosis and patient conversations. Laboratory scientists read it because gene–disease validity established in its pages shapes the panels and pipelines their laboratories run. Policy-minded readers — society members, ethicists, journal editors from neighbouring fields — read its commentaries and society statements for the profession's considered positions. That layered readership, sustained over more than seventy-five years, is the practical meaning of the journal's metrics: a CiteScore of 12.5 and an h-index of 348 are what a journal accumulates when several professional communities all treat the same title as required reading.

A Note on the Title

The journal's full registered title includes the definite article — The American Journal of Human Genetics — and catalogues and the ISSN record file it accordingly, while working references almost always shorten it to AJHG or cite it by its ISO abbreviation, Am. J. Hum. Genet. All three forms denote the same journal identified by ISSN 0002-9297 and 1537-6605; a reference in any of those forms, with those identifiers, belongs to this title and to no other.