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 …

Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Pangenome graphs can represent all variation between multiple reference genomes, but
current approaches to build them exclude complex sequences or are based upon a single …

Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

De novo assembly of a human genome using nanopore long-read sequences has been
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …

Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

Chromosomal aberrations including structural variations (SVs) are a major cause of human
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …

Structural genomic variants (SVs) are ubiquitous and play a major role in adaptation and
speciation. Yet, comparative and population genomics have focused predominantly on gene …

As long-read sequencing technologies are becoming increasingly popular, a number of
methods have been developed for the discovery and analysis of structural variants (SVs) …