Alternative splicing is a tightly regulated biological process by which the number of gene
products for any given gene can be greatly expanded. Genomic variants in splicing …

Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …

RNA sequencing (RNA-Seq) uses the capabilities of high-throughput sequencing methods
to provide insight into the transcriptome of a cell. Compared to previous Sanger sequencing …

Background: Common cancers develop through a multistep process often including
inherited susceptibility. Collaboration among multiple institutions, and funding from multiple …

Genome-wide association studies have greatly improved our understanding of the genetic
basis of disease risk. The fact that they tend not to identify more than a fraction of the specific …

Ultra-deep RNA sequencing has become a powerful approach for genome-wide analysis of
pre-mRNA alternative splicing. We develop MATS (multivariate analysis of transcript …

To study allele‐specific expression (ASE) and binding (ASB), that is, differences between
the maternally and paternally derived alleles, we have developed a computational pipeline …

Understanding how genetic variation affects distinct cellular phenotypes, such as gene
expression levels, alternative splicing and DNA methylation levels, is essential for better …

The genome-wide association study is a free-hypothesis approach based on screening of
thousands or even millions of genetic variants distributed throughout the whole human …

Motivation: Intra-tumor heterogeneity presents itself through the evolution of subclones
during cancer progression. Although recent research suggests that this heterogeneity has …