Etiqueta: AmJHumGenet

Starting in 2019, AJHG has published an annual feature1,2,3,4,5,6 identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group of …

When I assumed the role of editor-in-chief of the American Journal of Human Genetics (AJHG) in January 2018, I introduced myself in an editorial entitled “Transitions in an era of disruptive change.”1 That proved to be an apt title, as will be outlined…

This study used single-nucleus approaches to map genetic variants associated with chromatin accessibility and gene expression across liver cell types. Linking these genetic variants to cardiometabolic trait association signals implicated specific genes…

This study established an analytical framework that integrates large-scale cancer GWASs, proteomic data, and EHRs to identify druggable risk proteins and potential therapeutic candidates for cancer prevention. The authors reported 36 potentially drugga…

This perspective introduces a framework using “context qualifiers” to describe more accurately how genetic variants exert diverse, context-dependent effects on protein function. By addressing the limitations of broad terms such as loss or gain of funct…

Loss-of-function variants in genes linked to haploinsufficient Mendelian diseases have unexpectedly low rates of phenotypic expression in population-scale biobanks. Using statistical modeling and machine learning, we demonstrate that many of these vari…

Large-scale data sharing is indispensable for advancing human genetics and genomics (HGG) research and medicine. The willingness of study participants and researchers to share data has been the foundation of rapid advancements of the HGG field for deca…

Heterozygous variants in ESRRG are associated with an autosomal-dominant, non-progressive congenital movement disorder. Clinical characterization of eight individuals, supported by in silico modeling and cell-based functional assays, defines a recurren…

As genomics becomes increasingly embedded in research, healthcare, and society, training programs must adapt. Through focus groups with leaders across public health genetics subfields, we developed updated competencies reflecting the skills future prac…

Bi-allelic loss-of-function variants in protein arginine methyltransferase 9 (PRMT9) cause a neurodevelopmental disorder with variable severity. Affected individuals have mild to severe intellectual disability, global developmental delay, autism spectr…