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

Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

Oncogenes are activated through well-known chromosomal alterations such as gene fusion,
translocation, and focal amplification. In light of recent evidence that the control of key …

Human germline de novo mutations (DNMs) are both a driver of evolution and an important
cause of genetic diseases. In the past few years, whole-genome sequencing (WGS) of parent…

Genome-wide association studies (GWAS) have identified numerous genetic variants
associated with complex diseases, but mechanistic insights are impeded by a lack of …

Pluripotent stem cells (PSCs) are defined by their potential to generate all cell types of an
organism. The standard assay for pluripotency of mouse PSCs is cell transmission through the …

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

De novo mutations (DNMs) originating in gametogenesis are an important source of genetic
variation. We use a data set of 7,216 autosomal DNMs with resolved parent of origin from …

RNA polymerase II mediates the transcription of all protein-coding genes in eukaryotic cells,
a process that is fundamental to life. Genomic mutations altering this enzyme have not …

Although drainage pathways of soluble antigens from brain to cervical lymph nodes have
been well established, there is no direct evidence for similar routes of leukocytes leaving the …