variant detection

Variant detection and de novo assembly with HiFi reads

Applications update for comprehensive variant detection and de novo assembly with HiFi reads.

Evaluation of HG002 v4 draft benchmark against GATK calls on PacBio HiFi reads

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 …

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) …

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 …

Advantages of HiFi reads for variant discovery and genome assembly

The PacBio Sequel II System is capable of generating highly accurate, long reads (HiFi reads) that can be used for variant detection and assembly. In this presentation, we demonstrate the utility and provide example workflows for variant detection, …

Comprehensive Variant Detection with Highly Accurate Long Reads

Recent improvements in library preparation and sequencing chemistry have increased the length, accuracy, and throughput of PacBio Circular Consensus Sequencing (CCS) reads, resulting in 10-20kb reads with average read quality well above 99%. Here we …