The American Journal of Human Genetics
- The impact of sex on the immune system explored at the single-cell level
- This month in The Journal
- 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
- 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
- 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
- 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
- Measuring disease likelihood in genomic ascertainment
- Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
- Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies
- Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits
- This month in The Journal
- Implications of the FDA’s new plausible mechanism framework for the development of a personalized in vivo prime editing platform
- Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
- Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
- Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder
- Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility
- BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
- Adaptive admixture at ACKR1, the Duffy blood group locus, may have shaped Plasmodium vivax prevalence in Oman
- Genome-wide detection of human 5′ UTR variants that impact protein translation
- The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments
- Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants
- Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study
- Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
- Genetics of skeletal proportions across two different populations
- Best practices for improving alignment and variant calling on human sex chromosomes
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B
- Inclusion bias affects common variant discovery and replication in a health-system linked biobank
- 2025 ASHG Scientific Achievement Award: Decoding the genome—From structure to development to the promise of precision medicine
- 2025 ASHG Lifetime Achievement Award
- 2025 ASHG Leadership Award
- 2025 ASHG presidential address: Stronger together: Advancing human genetics through the power of community
- Mind the gap: Characterizing bias due to population mismatch in two-sample Mendelian randomization
- Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program
- This month in The Journal
- 2025 ASHG awards and addresses
- MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes
- Identification of de novo variants from parent-proband duos via long-read sequencing
- Higher eQTL power reveals signals that boost GWAS colocalization
- Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research
- Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy
- Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities
- Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1
- Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement
- Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome
- Multiple-testing corrections in case-control studies using identity-by-descent segments
- SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions
- Rare-variant aggregation highlights disease-linked genes associated with brain volume variation
- A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
- An endothelial RNA splicing atlas catalogs effects of IL-1β and identifies an alternative PROCR isoform with genetic links to pleiotropic vascular disease
- Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research Program
- Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver
- Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues
- This month in The Journal
- Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
- Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education
- AncientProxy: A catalog of ancient proxies for modern genetic variants
- Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
- MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
- Competition in human genetic technologies: The current US legal landscape
- A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies
- Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders
- Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications
- Genetic regulation of fatty acid content in adipose tissue
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
- Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature
- This month in The Journal
- LiMA: Robust inference of molecular mediation from summary statistics
- The dawn of interventional genetics
- De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
- MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
- GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
- The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory
- Interaction of identity and beliefs with genetic literacy
- Low population penetrance of variants associated with inherited retinal degenerations
- Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population
- MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations
- Genetic control of non-coding RNAs in the human brain and their implications for complex traits
- Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction
- Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
- Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes
- This month in The Journal
- Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding
- Genomic medicine year in review: 2025
- Transitions in interesting times
- Liver single-nucleus multiome profiling reveals cell-type mechanisms for cardiometabolic traits
- Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention
- Interpreting the functional impact of genetic variants: The need for context qualifiers
- Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks
- Collaborative science in genomics: The value of data sharing and thoughtful stewardship
- Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
- Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field
- Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
- Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit
