Clinicians can encounter sex and gender disparities in diagnostic and therapeutic
responses. These disparities are noted in epidemiology, pathophysiology, clinical …

Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …

Intratumour heterogeneity (ITH) fuels lung cancer evolution, which leads to immune evasion
and resistance to therapy. Here, using paired whole-exome and RNA sequencing data, we …

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 …

The Genotype-Tissue Expression (GTEx) project, sponsored by the NIH Common Fund, was
established to study the correlation between human genetic variation and tissue-specific …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in
observational studies is reproducibly associated with future risk of adult metabolic diseases …

Existing compendia of non-coding RNA (ncRNA) are incomplete, in part because they are
derived almost exclusively from small and polyadenylated RNAs. Here we present a more …

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

Deep catalogs of genetic variation from thousands of humans enable the detection of
intraspecies constraint by identifying coding regions with a scarcity of variation. While …