Publications by authors named "Tsz-Piu Kwok"
We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and heterozygous SVs, SVs of various types and sizes, and SVs with or without creating or destroying restriction sites. We show that OMSV has high sensitivity and specificity, with clear performance gains over the latest method.
View Article and Find Full Text PDFBackground: Optical mapping is a technique for capturing fluorescent signal patterns of long DNA molecules (in the range of 0.1–1 Mbp). Recently, it has been complementing the widely used short-read sequencing technology by assisting with scaffolding and detecting large and complex structural variations (SVs).
View Article and Find Full Text PDFArticle Synopsis
- Current methods for detecting structural variations in genomes are limited, especially with short-read DNA sequencing used on diploid cells, due to challenges like repetitive elements.
- The study demonstrates that using long, fluorescently labeled DNA molecules on nanochannel arrays allows for effective whole-genome structural variation detection without sequencing, achieving routine local phasing over large regions.
- In experiments with samples from the 1000 Genomes Project, the researchers identified more structural variants than previously recorded, some of which could impact gene function or regulation significantly.