Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Genotype× environment interactions (GxE) have long been recognized as a key mechanism
underlying human phenotypic variation. Technological developments over the past 15 years …

Sequence-based machine-learning models trained on genomics data improve genetic
variant interpretation by providing functional predictions describing their impact on the cis …

Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing
proteomic diversity. AS can also impact gene expression levels without increasing protein …

The discovery of genetic loci associated with complex diseases has outpaced the
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …

Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …

Human genetics has emerged as one of the most dynamic areas of biology, with a
broadening societal impact. In this review, we discuss recent achievements, ongoing efforts …

Abstract Interferon-α (IFNα), a type I interferon, is expressed in the islets of type 1 diabetic
individuals, and its expression and signaling are regulated by T1D genetic risk variants and …