With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry.
Genome-wide studies of copy number variation (CNV) have given rise to a new …

Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …

Structural variations are the greatest source of genetic variation, but they remain poorly
understood because of technological limitations. Single-molecule long-read sequencing has …

A key mutational process in cancer is structural variation, in which rearrangements delete,
amplify or reorder genomic segments that range in size from kilobases to whole …

Abstract Long-read Structural Variation (SV) calling remains a challenging but highly
accurate way to identify complex genomic rearrangements. Here, we present Sniffles2 …

Abstract Changes in gene copy number are among the most frequent mutational events in
all genomes and were among the mutations for which a physical basis was first known. Yet …

A major obstacle to malaria elimination is the great capacity of the parasite and vector
populations to evolve in response to malaria control interventions. The widespread use of …

Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions
have been observed in genomic disorders. Recently, a chromosome catastrophe …

Chromosome structural variation (SV) is a normal part of variation in the human genome, but
some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA …