Nanopore sequencing technology has the potential to render other sequencing
technologies obsolete with its ability to generate long reads and provide portability …

Aligning sequencing reads onto a reference is an essential step of the majority of genomic
analysis pipelines. Computational algorithms for read alignment have evolved in …

Genome sequence analysis has enabled significant advancements in medical and scientific
areas such as personalized medicine, outbreak tracing, and the understanding of evolution …

Abstract Background The first Atlantic cod (Gadus morhua) genome assembly published in
2011 was one of the early genome assemblies exclusively based on high-throughput 454 …

We now need more than ever to make genome analysis more intelligent. We need to read,
analyze, and interpret our genomes not only quickly, but also accurately and efficiently …

Motivation High throughput DNA sequencing (HTS) technologies generate an excessive
number of small DNA segments-called short reads-that cause significant computational …

Abstract Motivation Segmental duplications (SDs) or low-copy repeats, are segments of
DNA> 1 Kbp with high sequence identity that are copied to other regions of the genome …

Recently, there has been growing interest in genome sequencing, driven by advances in
sequencing technology, in terms of both efficiency and affordability. These developments …

Motivation Third-generation sequencing technologies can sequence long reads that contain
as many as 2 million base pairs. These long reads are used to construct an assembly (ie the …

Genotype imputation is an essential tool in genomics research, whereby missing genotypes
are inferred using reference genomes to enhance downstream analyses. Recently, public …