EP144: Long-read genome sequencing secondary processing pipelines provide variant call accuracy that exceeds current clinical standards for short-read genome sequencing

Abstract

Long-read sequencing is a promising technology for performing genome sequencing while maintaining contiguity. Early studies suggest that variant calling from long-read data may be as accurate as that seen in clinical short-read sequencing data. While these long-read platforms are relatively expensive, they reportedly capture the same events as short-read sequencing (eg, single-nucleotide variants, insertions, deletions), while being demonstrably better at capturing larger or more complicated events (eg, structural variants, copy number variants, and repeat expansions).