Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …

Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

The human reference genome represents only a small number of individuals, which limits its
usefulness for genoty**. We present a method named HISAT2 (hierarchical indexing for …

We introduce Salmon, a lightweight method for quantifying transcript abundance from RNA–
seq reads. Salmon combines a new dual-phase parallel inference algorithm and feature-rich …

Single-cell RNA sequencing has enabled the characterization of highly specific cell types in
many tissues, as well as both primary and stem cell-derived cell lines. An important facet of …

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 …

Induced pluripotent stem cell (iPSC) technologies have provided in vitro models of
inaccessible human cell types, yielding new insights into disease mechanisms especially for …

Normalization of RNA-sequencing (RNA-seq) data has proven essential to ensure accurate
inference of expression levels. Here, we show that usual normalization approaches mostly …

We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …