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

Circular RNAs (circRNAs) are covalently closed, endogenous biomolecules in eukaryotes
with tissue-specific and cell-specific expression patterns, whose biogenesis is regulated by …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

High-quality and complete reference genome assemblies are fundamental for the
application of genomics to biology, disease, and biodiversity conservation. However, such …

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 …

Accurate genome assembly is hampered by repetitive regions. Although long single
molecule sequencing reads are better able to resolve genomic repeats than short-read data …

Recent long-read assemblies often exceed the quality and completeness of available
reference genomes, making validation challenging. Here we present Merqury, a novel tool …

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 …

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

The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …