Research Highlights

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  • Genetics

Published online: 17 June 2009 | doi:10.1038/nchina.2009.129

Sequencing technology: Snappy snippets

Felix Cheung

Introduction

© (2009) istockphoto.com/Mark Evans

Identifying genetic variations, known as single-nucleotide polymorphisms (SNPs), between individuals or within populations can help scientists better understand human traits, disease risks, and responses to drugs and the environment. Next-generation DNA sequencing technologies, such as the Illumina Genome Analyzer (GA), have ultrahigh throughput and are thus suitable for large-scale studies, but their accuracy in SNP detection is still low compared to conventional Sanger sequencing technologies.

Wang Jun and co-workers at the Beijing Genomics Institute in Shenzhen¹ have developed a novel SNP-detection method for the Illumina GA technology. The method takes into account the intrinsic errors that are common in Illumina GA data and how these errors reflect the accuracy of the consensus sequence (the alignment of multiple sequences).

The researchers evaluated their SNP-detection method using the Asian genome sequence (see Human genome: A Han Chinese deciphered). Analyses showed that their method has a very low consensus error rate and excellent genome coverage — or in other words, better accuracy than Sanger sequencing technologies.

The authors of this work are from:
Beijing Genomics Institute at Shenzhen, Shenzhen, China; Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense, Denmark.

Reference

1. Li, R. et al. SNP detection for massively parallel whole-genome resequencing. Genome Res. doi:10.1101/gr.088013.108 (2009). | Article |