The American Journal of Human Genetics
- This Month in The Journal
- Cell-type deconvolution of bulk-blood RNA-seq reveals biological insights into neuropsychiatric disorders
- Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
- Role of CAMK2D in neurodevelopment and associated conditions
- CRISPR activation to characterize splice-altering variants in easily accessible cells
- The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK
- Regulatory features aid interpretation of 3′UTR variants
- A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy
- Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements
- Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways
- STIGMA: Single-cell tissue-specific gene prioritization using machine learning
- A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden
- Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis
- A Bayesian fine-mapping model using a continuous global-local shrinkage prior with applications in prostate cancer analysis
