The American Journal of Human Genetics
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The American Journal of Human Genetics is a monthly peer-reviewed scientific journal in the field of human genetics. It was established in 1948 by the American Society of Human Genetics and covers all aspects of heredity in humans, including the application of genetics in medicine and public policy, as well as the related areas of molecular and cell biology Source
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| Scope | International |
|---|---|
| Language | English |
| Country | United States of America |
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| Frequency | Monthly |
| Accepts contributed content | Yes |
Recent Articles
Search ArticlesDistinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
Results To investigate whether the germline and somatic variant landscapes are congruent, we assessed the extent of overlap of unique variants. The extracted, filtered, and harmonized dataset described in the methods comprised 32,941 unique P/LP germline coding variants from ClinVar and 12,907 unique O/LO somatic coding variants in tumor specimens from cBioPortal (Figure 1B) in the 40 selected TSGs with sufficient data.
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
Keywords BRCA1 exon 18 mRNA splicing profile variant classification BP7_strong(RNA)weights ENIGMA BRCA1/2 VCEP guidelines Get full text access Log in, subscribe or purchase for full access. References 1. Kuchenbaecker, K.B. ∙ Hopper, J.L. ∙ Barnes, D.R. ... Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers JAMA. 2017; 317:2402-2416 2. Domchek, S.M. ∙ Weber, B.L. Clinical management of BRCA1 and BRCA2 mutation carriers Oncogene. 2006; 25:5825-5831 3.
Shared genetic basis and structure of syndromic and normal facial variation
ArticleOnline nowOpen access Affiliations & Notes 1Department of Cell Biology and Anatomy, University of Calgary, Calgary, AB, Canada 2Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, AB, Canada 3McCaig Institute for Bone and Joint Health, University of Calgary, Calgary, AB, Canada 4Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium 5Department of Electrical Engineering, ESAT-PSI, Katholieke Universiteit Leuven, Leuven, Belgium...
Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
Main text (The American Journal of Human Genetics 113, 1719–1735; August 6, 2026) In the originally published version of this article, the cytogenetic band designation “Xq13.3” was incorrect. The correct designation is “Xp21.2.” The designation has now been corrected throughout the main text and supplemental information, including in the article title. The genomic coordinates and duplication breakpoint information reported in the article are correct and remain unchanged.
Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study
Keywords clinical genomics clinical data sharing explicit consent health policy data governance Get full text access Log in, subscribe or purchase for full access. References 1. Manolio, T.A. ∙ Chisholm, R.L. ∙ Ozenberger, B. ... Implementing genomic medicine in the clinic: the future is here Genet. Med. 2013; 15:258-267 2. Landrum, M.J. ∙ Lee, J.M. ∙ Benson, M. ... ClinVar: public archive of interpretations of clinically relevant variants Nucleic Acids Res. 2016; 44:D862-D868 3.
Shared inheritance reveals landscape of somatic and germline cancer risk in TP53
Keywords TP53 Li-Fraumeni somatic evolution clonal hematopoiesis somatic variants cancer risk UK Biobank germline variants Introduction The link between pathogenic mutations in the key tumor suppressor gene TP53 (MIM: 191170) and Li-Fraumeni syndrome (LFS; MIM:151623)—a rare, severe inherited cancer predisposition characterized by multiple early-onset malignancies including bone and soft-tissue sarcomas and breast cancer1—is among the oldest and best-established associations in cancer genetics.
Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa
Keywords GWAS Africa complex traits genetics phenotype population diversity replication admixture Get full text access Log in, subscribe or purchase for full access. References 1. Nielsen, R. ∙ Akey, J.M. ∙ Jakobsson, M. ... Tracing the peopling of the world through genomics Nature. 2017; 541:302-310 2. Bergström, A. ∙ McCarthy, S.A. ∙ Hui, R. ... Insights into human genetic variation and population history from 929 diverse genomes Science. 2020; 367, eaay5012 3. Ramachandran, S. ∙ Deshpande, O.
Systematic and proactive evaluation of AIRE missense variant effects
Results Here we undertook missense variant effect mapping for AIRE (outlined in Figure 1A). Because insulin is one of the thousands of genes upregulated by AIRE, because dysregulation of insulin is known to lead to either insulin tolerance or autoimmunity,15 and because insulin autoantibodies are implicated in the development of T1D—a symptom of APS-170,71,72—expression from the insulin promoter was chosen as the basis for our assay to evaluate AIRE function.
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features
Keywords ELAV2 neurodevelopmental disorder RNA-binding protein Drosophila molecular modeling common variation Get full text access Log in, subscribe or purchase for full access. References 1. Ravanidis, S. ∙ Kattan, F.G. ∙ Doxakis, E. Unraveling the Pathways to Neuronal Homeostasis and Disease: Mechanistic Insights into the Role of RNA-Binding Proteins and Associated Factors Int. J. Mol. Sci. 2018; 19, 2280 2. Stiles, J. ∙ Jernigan, T.L. The basics of brain development Neuropsychol. Rev. 2010; 20:327-348 3.
Mismapping of sequencing reads from polymorphic duplications generates spurious trans -eQTLs
Keywords transcriptomics trans-eQTL linkage disequilibrium mismapping LD interchromosomal LD cross-mappability trans-sQTL structural variation gene duplication Fisher's geometric model Get full text access Log in, subscribe or purchase for full access. References 1. Aqil, A. ∙ Li, Y. ∙ Wang, Z. ... Switch-like gene expression modulates disease risk Nat. Commun. 2025; 16:5323 2. Westra, H.-J. ∙ Peters, M.J. ∙ Esko, T. ...