Rare copy-number variants and 22q11.21 dosage alterations significantly influence Alzheimer’s disease risk, with deletions increasing and duplications decreasing susceptibility.
The American Journal of Human Genetics
Elsevier BV · Genomics & Bioinformatics · ISSN 0002-9297, 1537-6605
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CanVar-UK provides comprehensive germline variant data for over 1.1 million SNVs in 116 cancer susceptibility genes, supporting consistent interpretation across clinical settings.
Seven significant cis-by-trans epistatic effects regulate human plasma protein expression, with ABO acting as a central modulator in a complex interaction network.
Higher RAPGEF1 levels are linked to increased melanoma and nevus risk by activating RAS signaling pathways in melanocytes.
Monoallelic loss-of-function variants in ZNF536 cause a neurodevelopmental disorder with autism, behavioral issues, and developmental delays in humans and mice.
Exons contribute less to heritability as polygenicity increases, dropping from 22% in less-polygenic traits to 13% in highly polygenic traits.
A rare gain-of-function BMPR2 variant causes neurodevelopmental disorders in humans and induces defects in fruit flies.
Mutation rate heterogeneity causes systematic bias in variant effect predictions and uncovers biological mutational robustness in proteins.
Sickle cell trait is linked to increased risks of multi-system diseases, including kidney disease, pulmonary embolism, and anemia, with notable sex-specific differences.
Genes linked to sensory and metabolic age-related hearing loss are predominantly expressed in hair cells and spiral ganglion neurons, respectively, in the cochlea.
Genomic newborn screening across four countries successfully identified G6PD deficiency in over 10,800 infants, demonstrating feasibility and variability in implementation approaches.
A common IRF7 haplotype elevates IFN-α induction, boosting antiviral responses but increasing autoimmune risk in humans and mice.
Rapid, scalable pipeline enables quick generation of patient-specific neurons and therapeutics for neurodevelopmental disorders, demonstrated with Kleefstra syndrome.
ALLSPICE reveals that rare coding variants in genes show significant heterogeneity across 124 of 11,810 gene-trait pairs in the UK Biobank, highlighting complex pleiotropic effects.
Monoallelic variants in BRSK1 cause a neurodevelopmental disorder with variable symptoms in humans, with partial loss-of-function alleles impairing neuronal development in flies.
Canadian clinical laboratories are guided to share genetic data responsibly, enhancing diagnostic accuracy and innovation in genomic medicine through standardized practices.
Seventy percent of clinical genomic institutions permit data sharing without explicit consent, but most lack clear policies on scope, governance, and safeguards.
IsoRanker identifies pathogenic variants in Mendelian conditions with high accuracy using long-read transcriptome sequencing, even in small cohorts of around 11 individuals.
Pathogenic variants in 15.8% of children with cerebral palsy are linked to 60 genes, with only 16 showing strong evidence of causality, highlighting genetic heterogeneity.
Genetic analysis of 27 traits in 2,124 sub-Saharan Africans uncovers over 100 significant SNP associations, many unique to African populations.
Proactive assessment of 9,790 AIRE missense variants enables rapid classification, resolving 32% of uncertain cases and improving diagnosis of autoimmune polyendocrine syndrome type 1.
Androgens drive sexual dimorphism in Pilarowski-Bjornsson syndrome, with males showing protective effects linked to androgen regulation.
Mendelian disease mutations influence facial shape along the same background variation axes as common variants, revealing a shared genetic structure in humans.
The Gabriella Miller Kids First Data Resource has enabled genomic research on over 30,000 pediatric patients, leading to significant breakthroughs in childhood cancer and congenital anomalies.
Haploinsufficiency of ELAVL2 causes a neurodevelopmental disorder with cognitive, behavioral, and neurological features in 16 individuals.
Cell village and Dirichlet modeling reveal genetic factors influencing human neural progenitor cell proliferation, including autism risk and environmental sensitivity, with 12-39 cell lines analyzed.
Somatic TP53 variants predominate in middle-aged adults, with high VAF alleles linked to increased hematological malignancy risk, revealing a shift from germline to somatic cancer predisposition.
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