Posters

PgmNr 1540/T: Using long and linked reads to generate a new Genome in a Bottle small variant benchmark.

The Genome in a Bottle (GIAB) consortium performs authoritative characterization of 7 human genomes. Here, we describe work towards generating a new GIAB small variant benchmark that incorporates long and linked read sequencing data. The GIAB …

PgmNr 1866/W: Detection and phasing of small variants in Genome in a Bottle samples with highly accurate long reads

Introduction: Long-read PacBio SMRT Sequencing has been applied successfully to assemble genomes and detect structural variants. However, due to high raw read error rates of 10-15%, it has remained difficult to call small variants from long reads. …

PgmNr 2221/T: Structural variant in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.

Bipolar disorder (BD) is a phenotypically and genetically complex neurological disorder that affects 1% of the worldwide population. There is compelling evidence from family, twin and adoption studies supporting the involvement of a genetic …

Comprehensive variant detection in a human genome with highly accurate long reads

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 …

Comprehensive variant detection in a human genome with highly accurate long reads

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 …

Abstract 1738: Characterization of structural variants within MACROD2 in the pathogenesis of colorectal cancer

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 …

Single Molecule High-Fidelity (HiFi) Sequencing with >10 kb Libraries

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 …

Comprehensive Variant Detection in a Human Genome with PacBio High-Fidelity Reads

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 …

Full-length transcript (Iso-Seq) profiling for improved genome annotations (poster #913)

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 Sequencing Using PacBio SMRT Technology (poster #307)

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 …