The American Journal of Human Genetics

The American Journal of Human Genetics
Title	The American Journal of Human Genetics
Discipline	Human genetics
Abbreviation	Am. J. Hum. Genet.
Publisher	American Society of Human Genetics
Country	United States
History	1948–present
Frequency	Monthly
Impact	(see Impact and Reception)

The American Journal of Human Genetics is a leading peer-reviewed periodical publishing original research and reviews in human genetics, genomic medicine, and related biomedical sciences. Established in the mid-20th century, the journal has chronicled advances linked to landmark figures and institutions in genetics, molecular biology, and clinical research. Its pages have featured work connected to prominent researchers, research centers, universities, and public health initiatives internationally.

History

The journal was founded in 1948 amid postwar scientific developments involving institutions such as National Institutes of Health, Cold Spring Harbor Laboratory, Harvard Medical School, Johns Hopkins University, and University of California, Berkeley. Early editors and contributors included investigators affiliated with Roswell Park Memorial Institute, Massachusetts General Hospital, University of Chicago, Yale University, and Stanford University School of Medicine. Throughout the 1950s and 1960s the journal published studies alongside reports from researchers connected to Watson and Crick-era laboratories at University of Cambridge, projects at Lasker Foundation-linked groups, and clinical teams at Mayo Clinic. In subsequent decades the journal reflected genomics-era shifts involving collaborations with Wellcome Trust, Sanger Institute, European Molecular Biology Laboratory, and consortia such as the Human Genome Project and later multicenter networks including 1000 Genomes Project and Genome-wide Association Studies. The journal’s administrative and editorial offices have interacted with organizations such as American Association for the Advancement of Science, National Academy of Sciences, Howard Hughes Medical Institute, and international societies including European Society of Human Genetics and Asian Pacific Society of Human Genetics.

Scope and Content

The journal publishes papers spanning clinical genetics, population genetics, medical genomics, functional genomics, statistical genetics, and translational research from investigators at institutions like Broad Institute, University of Oxford, Karolinska Institutet, University of Toronto, McGill University, Cold Spring Harbor Laboratory, Imperial College London, ETH Zurich, Max Planck Society, and University College London. Topics include monogenic disorders studied at centers such as Great Ormond Street Hospital, chromosomal abnormalities investigated at Guy's and St Thomas' NHS Foundation Trust, cancer genomics linked to Dana-Farber Cancer Institute, pharmacogenomics reported from Mayo Clinic, and population studies involving cohorts like Framingham Heart Study and UK Biobank. The journal features reviews, original articles, brief reports, methodological papers, and commentaries by authors associated with Salk Institute, Scripps Research, Vanderbilt University Medical Center, University of Washington, Columbia University Irving Medical Center, University of Pennsylvania, UCLA, Mount Sinai Health System, and University of Michigan. Special issues and thematic series have highlighted collaborations with bodies such as Centers for Disease Control and Prevention, World Health Organization, Bill & Melinda Gates Foundation, and multinational consortia like DECIPHER or ClinGen.

Editorial Structure and Peer Review

The editorial board typically comprises editors and associate editors drawn from academic centers including Harvard T.H. Chan School of Public Health, Yale School of Medicine, UCSF, University of Cambridge, Karolinska Institutet, and University of Edinburgh. The peer review process engages external reviewers from universities and institutes such as Princeton University, Cornell University, University of California, San Diego, Texas Children’s Hospital, Children’s Hospital of Philadelphia, Fred Hutchinson Cancer Research Center, University of British Columbia, and Johns Hopkins Bloomberg School of Public Health. Manuscript handling and ethics oversight has involved policies informed by committees and organizations including Committee on Publication Ethics, International Committee of Medical Journal Editors, National Research Council, American Medical Association, and funding agencies such as National Science Foundation and Wellcome Trust. Editorial decisions have been influenced by standards upheld at professional meetings hosted by American Society of Human Genetics, European Society of Human Genetics, American College of Medical Genetics and Genomics, and conferences like Cold Spring Harbor Laboratory Meetings.

Abstracting and Indexing

The journal is abstracted and indexed in major services and databases associated with bibliometric and library systems such as PubMed, MEDLINE, Science Citation Index, Scopus, EMBASE, BIOSIS Previews, and Google Scholar. Institutional repository and catalog entries include listings by libraries at Library of Congress, National Library of Medicine, British Library, Bibliothèque nationale de France, and university libraries at Yale University Library, Bodleian Library, Harvard Library, and University of Toronto Libraries. Citation tracking and metrics are compiled by services maintained by organizations like Clarivate Analytics, Elsevier, and CrossRef.

Impact and Reception

The journal’s impact factor and reputation have been discussed in contexts involving prize committees such as Lasker Award, Nobel Prize, Breakthrough Prize in Life Sciences, and professional recognitions awarded by American Association for Cancer Research and European Research Council. Influential papers have been cited in guidelines from American College of Medical Genetics and Genomics, policy documents from Centers for Medicare & Medicaid Services, and position statements by World Health Organization. Scholarly reception has been debated at meetings of National Institutes of Health, Royal Society, Institute of Medicine, and in commentary by editorial pages of Nature Genetics, Science, Cell, Lancet, and New England Journal of Medicine.

Notable Articles and Contributions

The journal published foundational reports connected to discoveries by investigators affiliated with James Watson Laboratory, Francis Crick colleagues, Tom Strachan, Andrew Read, Mary-Claire King, Svante Pääbo, Eric Lander, Francis Collins, Huda Zoghbi, Victor McKusick, Helen H. Hobbs, Robert Nussbaum, Bruce Beutler, Kurt Wüthrich, Stuart Orkin, David Altshuler, Haplotype Map Consortium, International HapMap Project, Michael Stratton, Paul Nurse, Shinya Yamanaka, Yoshinori Ohsumi, Jennifer Doudna, Emmanuelle Charpentier, Feng Zhang, George Church, Ewan Birney, Rudolf Jaenisch, J. Craig Venter, Kári Stefánsson, Maynard Olson, Edwin Southern, John Sulston, Sydney Brenner, Elizabeth Blackburn, Carol Greider, Jack Szostak, Ada Yonath]. Contributions include disease gene identifications, methodological innovations in sequencing and analysis, and reports that informed clinical practice guidelines used at institutions like Cleveland Clinic, Brigham and Women's Hospital, and St. Jude Children's Research Hospital.

Category:Genetics journals