Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

Medulloblastoma is an aggressively growing tumour, arising in the cerebellum or medulla/brain
stem. It is the most common malignant brain tumour in children, and shows tremendous …

The functional complexity of the human transcriptome is not yet fully elucidated. We report a
high-throughput sequence of the human transcriptome from a human embryonic kidney and …

Pilocytic astrocytoma, the most common childhood brain tumor 1 , is typically associated with
mitogen-activated protein kinase (MAPK) pathway alterations 2 . Surgically inaccessible …

The zebra finch is an important model organism in several fields 1 , 2 with unique relevance
to human neuroscience 3 , 4 . Like other songbirds, the zebra finch communicates through …

Ascertaining when and where genes are expressed is of crucial importance to understanding
or predicting the physiological role of genes and proteins and how they interact to form the …

Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high-…

Epigenetic alterations, that is, disruption of DNA methylation and chromatin architecture, are
now acknowledged as a universal feature of tumorigenesis 1 . Medulloblastoma, a clinically …

Importance Clonal hematopoiesis of indeterminate potential (CHIP) is associated with
increased risk of atherosclerotic cardiovascular disease, and mouse experiments suggest that …

Early-onset prostate cancer (EO-PCA) represents the earliest clinical manifestation of
prostate cancer. To compare the genomic alteration landscapes of EO-PCA with "classical" (elderly…