Genome in a Bottle

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 …

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) …

Reviewing benchmark v3.3.2 PacBio CCS discrepancies in benchmark v4alpha

Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

The major DNA sequencing technologies in use today produce either highly-accurate short reads or noisy long reads. We developed a protocol based on single-molecule, circular consensus sequencing (CCS) to generate highly-accurate (99.8%) long reads …

Genome in a Bottle Consortium

A public-private-academic consortium hosted by NIST to develop reference materials and standards for clinical sequencing