Introduction: Long-read sequencing has been applied successfully to assemble genomes and detect structural variants. However, due to high raw-read error rates (10-15%), it has remained difficult to call small variants from long reads. Recent …
Introduction: Long-read sequencing has been applied successfully to assemble genomes and detect structural variants. However, due to high raw-read error rates (10-15%), it has remained difficult to call small variants from long reads. Recent …
Background: Cancer is caused by somatic DNA alterations, which comprise small nucleotide variants (SNVs), chromosome somatic copy number alterations (SCNAs) and chromosomal breakpoint structural variants (SVs). Previously, we investigated …
Recent improvements in sequencing chemistry and instrument performance combine to create a new PacBio data type, Single Molecule High-Fidelity reads (HiFi reads). Increased read length and improvement in library construction enables average read …
Human genomic variation ranges in size from single nucleotide substitutions to large chromosomal rearrangements. Sequencing technologies tend to be optimized for detecting particular variant types and sizes. Short reads excel at detecting SNVs and …
Incomplete annotation of genomes represents a major impediment to understanding biological processes, functional differences between species, and their evolutionary mechanisms. Often, genes that are large, embedded within duplicated genomic regions, …
Mitochondrial DNA (MtDNA) mutations have been increasingly recognized as important contributors to an array of human diseases such as Parkinson’s disease, Alzheimer’s disease, colorectal cancer, and Kearns–Sayre syndrome. Characterization of the …
Targeted sequencing employing PCR amplification is a fundamental approach to studying human genetic disease. PacBio’s Sequel System and supporting products provide an end-to-end solution for amplicon sequencing, offering better performance to Sanger …
Janelia’s Fly Olympiad Project Team has developed several quantitative systems for measuring *Drosophila* behavior. The first and most complex behavioral apparatus we implemented, that we call “the box”, efficiently tests groups of flies in …
By leveraging quantitative behavioral assays and modulating the function of targeted neurons in thousands of lines of fruit flies, the Fly Olympiad project is studying how neurons in the brain work to govern behavior. The Fly Olympiad has developed a …