Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …

Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Since the days of Sanger sequencing, next-generation sequencing technologies have
significantly evolved to provide increased data output, efficiencies, and applications. These …

Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

Over the past decade, RNA sequencing (RNA-seq) has become an indispensable tool for
transcriptome-wide analysis of differential gene expression and differential splicing of …

Large-scale sequencing of RNA from individual cells can reveal patterns of gene, isoform
and allelic expression across cell types and states. However, current short-read single-cell …

Annotating newly sequenced genomes and determining alternative isoforms from long-read
RNA data are complex and incompletely solved problems. Here we present IsoQuant—a …

Motivation Recent advances in sequencing technologies promise ultra-long reads of∼ 100
kb in average, full-length mRNA or cDNA reads in high throughput and genomic contigs …

Background The possibility of generating large RNA-sequencing datasets has led to
development of various reference-based and de novo transcriptome assemblers with their …