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

The accurate and timely diagnosis of disease is a prerequisite for efficient therapeutic
intervention and epidemiological surveillance. Diagnostics based on the detection of nucleic …

In mammals, interactions between sequences within topologically associating domains
enable control of gene expression across large genomic distances. Yet it is unknown how …

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 …

Chromosome structure in mammals is thought to regulate transcription by modulating three-
dimensional interactions between enhancers and promoters, notably through CTCF …

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 …

Nanopore sequencers can be used to selectively sequence certain DNA molecules in a pool
by reversing the voltage across individual nanopores to reject specific sequences, enabling …

The CRISPR–Cas system is a powerful genome editing tool that functions in a diverse array
of organisms and cell types. The technology was initially developed to induce targeted …

Abstract The 2020 Nobel Prize in Chemistry was awarded to Emmanuelle Charpentier and
Jennifer Doudna for the development of the Clustered regularly interspaced short …

Although next-generation sequencing (NGS) technology revolutionized sequencing, offering
a tremendous sequencing capacity with groundbreaking depth and accuracy, it continues to …