In recent years, RNA-sequencing (RNA-seq) has emerged as a powerful technology for
transcriptome profiling. For a given gene, the number of mapped reads is not only …

Successful treatment of cancer depends on early diagnosis and effective monitoring of
patients' response to therapy. Traditional tools based on tumor biopsies lack the sensitivity …

The discovery of drivers of cancer has traditionally focused on protein-coding genes,,–. Here
we present analyses of driver point mutations and structural variants in non-coding regions …

De novo assembly of a human genome using nanopore long-read sequences has been
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …

Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …

Existing circular RNA (circRNA) databases have become essential for transcriptomics.
However, most are unsuitable for mining in-depth information for candidate circRNA …

Our understanding of how human embryos develop before gastrulation, including spatial
self-organization and cell type ontogeny, remains limited by available two-dimensional …

Determining protein levels in each tissue and how they compare with RNA levels is
important for understanding human biology and disease as well as regulatory processes …

Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …

Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …