Research Highlights

• Subject Categories:
  • Genetics
  • Biotechnology
  • Ecology & evolution

Published online: 12 November 2008 | doi:10.1038/nchina.2008.266

Human genome: A Han Chinese deciphered

Felix Cheung

Introduction

© (2008) istockphoto.com/Patricia Nelson

The human genome is like an encyclopaedia; it contains all the genetic information needed to answer questions on human development, physiology, medicine and evolution. John Craig Venter and James Dewey Watson were the first two humans to have their complete genome sequenced. Now an international team led by Jun Wang and Jian Wang at the Beijing Genomics Institute in Shenzhen¹ has generated the first complete genome sequence of a Han Chinese individual — a representative of an ethnic group that accounts for nearly 30% of the human population.

A male Han Chinese individual nicknamed YH — the acronym for Yan and Huang, the two emperors thought to be the ancestors of Han Chinese — donated his DNA to the study. Using a 'massively parallel sequencing method', the researchers sequenced the YH genome with '36-fold coverage' — a much higher sequence redundancy, and thereby accuracy, than the '7-fold coverage' Venter or Watson genome. Further comparison of the three individual genomes shows that 31.8% of the single-nucleotide polymorphisms (markers of genetic variability) in the YH genome are unique.

The findings will have huge impact in medicine, particularly in Chinese-specific genetic diseases. Moreover, the sequencing technologies used in the study have a very high throughput. The researchers believe that by using these next-generation sequencers, a human genome can be deciphered in 1–2 months for less than half a million US dollars — a small example of what is to come in the future of personal genomics.

The authors of this work are from:
Beijing Genomics Institute, Shenzhen, China; Genome Research Institute, Shenzhen University Medical School, Shenzhen, China; National Engineering Center for Genomics and Bioinformatics, Beijing, China; Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense, Denmark; College of Life Sciences, Peking University, Beijing, China; Beijing Genomics Institute, Chinese Academy of Sciences, Beijing, China; Graduate University of Chinese Academy of Sciences, Beijing, China; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Departments of Integrative Biology and Statistics, University of California, Berkeley, California, USA; Department of Biological Sciences and Department of Medicine, University of Alberta, Edmonton, Canada; Institute of Human Genetics, University of Aarhus, Aarhus, Denmark.

Reference

1. Wang, J. et al. The diploid genome sequence of an Asian individual. Nature doi:10.1038/nature07484 (2008). | Article |