Several decades of research have convincingly shown that classical human leukocyte
antigen (HLA) loci bear signatures of natural selection. Despite this conclusion, many …

The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …

Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …

Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Long non-coding RNA (lncRNA) genes have well-established and important impacts on
molecular and cellular functions. However, among the thousands of lncRNA genes, it is still …

Allele-specific sequencing reads provide a powerful signal for identifying molecular
quantitative trait loci (QTLs), but they are challenging to analyze and are prone to technical …

Allelic expression analysis has become important for integrating genome and transcriptome
data to characterize various biological phenomena such as cis-regulatory variation and …

Coding variants represent many of the strongest associations between genotype and
phenotype; however, they exhibit inter-individual differences in effect, termed 'variable …

Accurate prediction of the functional effect of genetic variation is critical for clinical genome
interpretation. We systematically characterized the transcriptome effects of protein-truncating …

Rare genetic variants are abundant in humans and are expected to contribute to individual
disease risk 1, 2, 3, 4. While genetic association studies have successfully identified …