American Journal of Human Genetics

American Journal of Human Genetics
Title	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
Issn	0002-9297

Contents

American Journal of Human Genetics is a peer-reviewed scientific journal published by the American Society of Human Genetics that covers research in human genetics, genomic medicine, and related biomedical fields. The journal publishes original research, reviews, and commentary that intersect with clinical genetics, population genetics, and molecular biology, and it has featured work connected to institutions such as Massachusetts General Hospital, Broad Institute, Johns Hopkins University, Harvard Medical School, and Washington University in St. Louis. Editors and contributors have included investigators affiliated with National Institutes of Health, University of California, San Francisco, Stanford University School of Medicine, Columbia University, and University of Cambridge.

History

The journal was established in 1948 amid developments led by figures associated with American Society of Human Genetics, William Allan, Victor McKusick, Hermann Joseph Muller, George B. Schuster, and organizations such as the Rockefeller Foundation and Carnegie Institution. Early editorial leadership connected the journal to departments at Johns Hopkins University, University of Michigan, Yale University School of Medicine, Columbia University Vagelos College of Physicians and Surgeons, and University of Chicago. Through the Cold War era the journal published work related to population studies from collaborators at Cold Spring Harbor Laboratory, National Institutes of Health, University of Oxford, and University of Edinburgh. Later expansions reflected genomic projects linked to the Human Genome Project, HapMap Project, 1000 Genomes Project, ENCODE Project, and consortia involving Wellcome Trust and European Molecular Biology Laboratory.

Content spans human genetic variation, clinical genetics, molecular mechanisms, and translational research with submissions from laboratories at Broad Institute, Sanger Institute, Max Planck Institute for Evolutionary Anthropology, Mayo Clinic, and Cleveland Clinic. The journal includes articles on Mendelian disorders studied at Children's Hospital of Philadelphia, complex trait genetics from groups at University of California, Los Angeles, pharmacogenomics tied to Food and Drug Administration regulatory science, and ethical, legal, and social implications examined in conjunction with scholars at Harvard School of Public Health and Georgetown University. Reviews often synthesize findings related to loci described by researchers at Cold Spring Harbor Laboratory, McGill University, Karolinska Institutet, and University of Toronto.

The journal is indexed in bibliographic services and databases run by entities like National Library of Medicine, Web of Science Group, Scopus (Elsevier), and CrossRef, and it appears in catalogues associated with PubMed Central, MEDLINE, Embase, and Current Contents. Institutional subscriptions often come through libraries at Harvard Library, Library of Congress, British Library, National Library of Medicine, and university systems such as University of California and University of Oxford.

The journal's articles have influenced practice and policy referenced by agencies including Centers for Disease Control and Prevention, World Health Organization, Office for Human Research Protections, and advisory bodies at National Academies of Sciences, Engineering, and Medicine. High-citation works have been authored by scientists affiliated with Broad Institute, Wellcome Sanger Institute, Stanford University, Massachusetts Institute of Technology, and Columbia University, and discussed in reviews from journals such as Nature Genetics, The Lancet, Science, and Cell. The journal's impact factor and citation metrics are tracked by providers like Clarivate Analytics and Scopus (Elsevier).

Published contributions include landmark reports connected to the Human Genome Project, association studies from teams involved in the International HapMap Consortium, rare-disease gene discoveries from investigators at University of Washington, and methodological advances originating at Broad Institute and Cold Spring Harbor Laboratory. Seminal articles have been cited alongside work by researchers from Johns Hopkins University, University of Chicago, Yale University, University of Cambridge, and University College London. The journal has also published consensus statements and guidelines developed with participation from American College of Medical Genetics and Genomics, European Society of Human Genetics, and ClinGen.

Authors publishing in the journal have been recognized with prizes and honors linked to institutions and awards such as the Lasker Award, King Faisal International Prize, Royal Society, and election to bodies like the National Academy of Sciences. Controversies have involved debates over data access and consent involving projects associated with 1000 Genomes Project, reanalysis of population genetics studies tied to researchers at Harvard University and University of Oxford, and ethical discussions involving stakeholders including Council for International Organizations of Medical Sciences and World Health Organization.

Category:Genetics journals Category:Academic journals established in 1948