RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-
causing gene regulatory defects in individuals affected by genetically undiagnosed rare …

Advances in transcriptomics have provided an exceptional opportunity to study functional
implications of the genetic variability. Technologies such as RNA-Seq have emerged as …

Abstract Characterization of genetic regulatory variants acting on livestock gene expression
is essential for interpreting the molecular mechanisms underlying traits of economic value …

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

INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …

Abstract The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been
established to develop a public resource of genetic regulatory variants in livestock, which is …

Chromosomal instability in cancer consists of dynamic changes to the number and structure
of chromosomes,. The resulting diversity in somatic copy number alterations (SCNAs) may …

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 …

Read-based phasing allows to reconstruct the haplotype structure of a sample purely from
sequencing reads. While phasing is a required step for answering questions about …

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