American Journal of Human Genetics

Aims & Scope

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.

Topics explored by AJHG include behavioral genetics, biochemical genetics, clinical genetics, cytogenetics, dysmorphology, gene therapy, genetic counseling, genetic epidemiology, genomics, immunogenetics, molecular genetics, neurogenetics, and population genetics.

AJHG welcomes submissions of articles and reports on timely subjects concerning all aspects of human genetics, including studies of model organisms that are of direct relevance to human genetics.

Manuscripts should be written in a manner accessible to investigators representing diverse backgrounds in human genetics.

Descriptions of new statistical methods of general interest to the genetics community are welcome.

New methods should be compared to existing methods with the use of real data and/or simulations with parameters (e.g., haplotype frequencies, effect sizes) that are based on a real data example (e.g., marker or haplotype data from the HapMap project).

All novel computer programs must be made publicly available by the time that the manuscript is published, and a URL for the website must be included in the Web Resources section of the manuscript.

Letters commenting on material previously published in AJHG are also welcome.

AJHG does not publish reports of either single mutations or mutational surveys of previously identified loci unless they have unusual significance and substantial insight.

Descriptions of new linkage assignments will be considered only if they are of special interest.

Reports of negative data will not normally be considered.

View Aims & Scope

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Metrics & Ranking

Impact Factor

Year	Value
2025	8.1
2024	8.10

SJR (SCImago Journal Rank)

Year	Value
2024	4.531

Quartile

Year	Value
2024	Q1

Journal Rank

Year	Value
2024	335

Journal Citation Indicator

Year	Value
2024	4223

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Abstracting & Indexing

Journal is indexed in leading academic databases, ensuring global visibility and accessibility of our peer-reviewed research.

• Scopus
• Google Scholar
• Web of Science
• Medline
• PubMed
• Embase

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Subjects & Keywords

Journal’s research areas, covering key disciplines and specialized sub-topics in Biochemistry, Genetics and Molecular Biology and Medicine, designed to support cutting-edge academic discovery.

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Most Cited Articles

The Most Cited Articles section features the journal's most impactful research, based on citation counts. These articles have been referenced frequently by other researchers, indicating their significant contribution to their respective fields.

• PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

  Citation: 28765

  Authors: Shaun, Benjamin, Kathe, Lori, Manuel A.R., David, Julian, Pamela, Paul I.W., Mark J., Pak C.

• GCTA: A Tool for Genome-wide Complex Trait Analysis

  Citation: 7008

  Authors: Jian, S. Hong, Michael E., Peter M.

• A New Statistical Method for Haplotype Reconstruction from Population Data

  Citation: 6216

  Authors: Matthew, Nicholas J., Peter

• 10 Years of GWAS Discovery: Biology, Function, and Translation

  Citation: 3129

  Authors: Peter M., Naomi R., Qian, Pamela, Mark I., Matthew A., Jian

• A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data

  Citation: 2970

  Authors: Matthew, Peter

• Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies

  Citation: 2881

  Authors: A., P.D.P., S., H.A., J.E., J.L., N., H., O., Ã…., B., P., S., D.M., N., E., H., E., J., J., B., H., S., H., H., K., O.-P., D., C., J., F., D.G., D.F.

• Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering

  Citation: 2863

  Authors: Sharon R., Brian L.

• Multipoint Quantitative-Trait Linkage Analysis in General Pedigrees

  Citation: 2520

  Authors: Laura, John

• REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

  Citation: 2258

  Authors: Nilah M., Joseph H., Vikas, Sumit, Shannon K., Saurabh, Anthony, Qing, Emily, Danielle, Lisa A., Craig C., Janet L., William B., Jianfeng, Kathleen A., Ethan M., Johanna, John D., Isaac J., Olivier, Geraldine, Graham G., Robert J., Christiane, Chih-Lin, Fredrik, William J., William D., Diptasri, Rosalind A., Zsofia, Carlos D., Daniel J., Trevor, Elaine A., Joan E., Predrag, Stephen N., Alice S., Weiva

• Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

  Citation: 2198

  Authors: David T., Margaret P., Swaroop, Leslie G., Arthur R., Nigel P., Deanna M., John A., Evan E., Charles J., W. Andrew, Lars, Jan M., Ada, Laird, Erin B., Klaas, Ian D., Robert M., Charles, James M., Carla, Stephen W., Nancy B., Dimitri J., James H., Erik C., Joris R., Darrel J., Michael S., Christa Lese, David H.

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