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The American Journal of Human Genetics
- A transparent and generalizable deep-learning framework for genomic ancestry prediction
- Bi-allelic missense variants in human GPN2 result in Perrault syndrome
- Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias
- This month in The Journal
- Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes
- Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome
- A transparent and generalizable deep-learning framework for genomic ancestry prediction
- Bi-allelic missense variants in human GPN2 result in Perrault syndrome
- Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias
- This month in The Journal
- Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes
- Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome
- Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity
- Deciding “what” to screen for and “when”: The importance of natural history information
- Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity
- Deciding “what” to screen for and “when”: The importance of natural history information
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease
- Integrating social determinants of health and genetic risk in disease risk models
- Integrating social determinants of health and genetic risk in disease risk models
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease
- De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
- De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
- Complete chromosome 21 centromere sequencing of families with Down syndrome
- Complete chromosome 21 centromere sequencing of families with Down syndrome
- Genome-wide analysis implicates inner ear development in Ménière disease
- Genome-wide analysis implicates inner ear development in Ménière disease
- Trust, mistrust, and the promise of AI in genomics for African populations
- Trust, mistrust, and the promise of AI in genomics for African populations
- Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
- Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
- Identifying condition-related cell-cell communication events using supervised tensor analysis
- HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
- Patricia A. Jacobs (1934–2026)
- This month in The Journal
- HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
- Patricia A. Jacobs (1934–2026)
- This month in The Journal
- Identifying condition-related cell-cell communication events using supervised tensor analysis
- DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations
- DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations
- Guidance on communication and informed consent with patients and their families for experimental individualized treatments
- Integrative genomics and single-cell CRISPRi screening dissect Alzheimer GWAS non-coding variants regulating TSPAN14
- Guidance on communication and informed consent with patients and their families for experimental individualized treatments
- Integrative genomics and single-cell CRISPRi screening dissect Alzheimer GWAS non-coding variants regulating TSPAN14
- Polymorphic CGG repeats in gene regulation and disease
- Polymorphic CGG repeats in gene regulation and disease
- Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly
- MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering
- Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly
- MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank
- Genetics of skeletal proportions across two different populations
- Genetics of skeletal proportions across two different populations
- A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
- A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
- Principled measures and estimates of trait polygenicity
- Principled measures and estimates of trait polygenicity
- The impact of sex on the immune system explored at the single-cell level
- This month in The Journal
- The impact of sex on the immune system explored at the single-cell level
- This month in The Journal
- The impact of sex on the immune system explored at the single-cell level
- This month in The Journal
- Signatures of pathogen-driven selection and Austronesian gene flow of Papua New Guinea HLA alleles
- Signatures of pathogen-driven selection and Austronesian gene flow of Papua New Guinea HLA alleles
- Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases
- Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases
- Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease
- Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease
- Navigating data sharing in research
- Navigating data sharing in research
- Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
- Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
- Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
- Benchmarking genetic birth prevalence estimates against newborn screening data
- Benchmarking genetic birth prevalence estimates against newborn screening data
- Benchmarking genetic birth prevalence estimates against newborn screening data
- Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
- Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
- Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
- A flexible and unified framework for single- and multi-outcome Mendelian randomization using summary statistics
- A flexible and unified framework for single- and multi-outcome Mendelian randomization using summary statistics
- A flexible and unified framework for single- and multi-outcome Mendelian randomization using summary statistics
- Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands
- Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands
- Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands
- Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic risk
- Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic risk
- Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic risk
- PACells identifies phenotype-associated cell states from single-cell chromatin accessibility profiles
- Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization
- PACells identifies phenotype-associated cell states from single-cell chromatin accessibility profiles
- Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization
- PACells identifies phenotype-associated cell states from single-cell chromatin accessibility profiles
- Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization
- Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
- Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
- Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
- Measuring disease likelihood in genomic ascertainment
