Here we describe NanoPack, a set of tools developed for visualization and processing of
long-read sequencing data from Oxford Nanopore Technologies and Pacific Biosciences. …

Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples. …

Increases in the cohort size in long-read sequencing projects necessitate more efficient
software for quality assessment and processing of sequencing data from Oxford Nanopore …

We sequenced the genome of the Yoruban reference individual NA19240 on the long-read
sequencing platform Oxford Nanopore PromethION for evaluation and benchmarking of …

A substantial amount of structural variation in the human genome remains uninvestigated
due to the limitations of existing technologies, the presence of repetitive sequences, and the …

Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A,
Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk …

Technological limitations have hindered the large-scale genetic investigation of tandem
repeats in disease. We show that long-read sequencing with a single Oxford Nanopore …

In this study, we characterize a new collection that comprises multidrug-resistant (MDR),
extensively drug-resistant (XDR), pandrug-resistant (PDR), and carbapenem-resistant modern …

Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases
(NBD) involving early neuronal network dysfunctions and alterations in the homeostasis …

Acinetobacter baumannii is an opportunistic pathogenic bacterium prioritized by WHO and
CDC because of its increasing antibiotic resistance. Heterogeneity among strains represents …