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 wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …

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 …

Long-read sequencing (LRS) technologies have provided extremely powerful tools to
explore genomes. While in the early years these methods suffered technical limitations, they …

Despite recent improvements in sequencing methods, there remains a need for assays that
provide high sequencing depth and comprehensive variant detection. Current methods …

Methods that enable rapid, sensitive and specific analyses of nucleic acid sequences have
positive effects on precise disease diagnostics and effective clinical treatments by providing …

Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …

DNA sequencing has revolutionized medicine over recent decades. However, analysis of
large structural variation and repetitive DNA, a hallmark of human genomes, has been …

Extrachromosomal DNA (ecDNA) is a common mode of oncogene amplification but is
challenging to analyze. Here, we adapt CRISPR-CATCH, in vitro CRISPR-Cas9 treatment …

The maturation of high-throughput short-read sequencing technology over the past two
decades has shaped the way genomes are studied. Recently, single-molecule, long-read …