Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

Published in The American Journal of Human Genetics.

Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses - UCSC News


Long-read sequencing revolutionizes diagnosis of rare diseases - News Medical


Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses - Science Daily


Long-Read Sequencing Transforms Rare Disease Diagnosis with Breakthrough Precision - World Today News