A decade’s perspective on DNA sequencing technology

The decade since the Human Genome Project ended has witnessed a remarkable sequencing technology explosion that has permitted a multitude of questions about the genome to be asked and answered, at unprecedented speed and resolution. Here I present examples of how the resulting information has both enhanced our knowledge and expanded the impact of the genome on biomedical research. New sequencing technologies have also introduced exciting new areas of biological endeavour. The continuing upward trajectory of sequencing technology development is enabling clinical applications that are aimed at improving medical diagnosis and treatment.

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[21]  N. Hanna,et al.  EGF Receptor Gene Mutations Are Common in Lung Cancers From “Never Smokers” and Are Associated With Sensitivity of Tumors to Gefitinib and Erlotinib , 2006 .

[22]  J. Bonfield,et al.  Finishing the euchromatic sequence of the human genome , 2004, Nature.

[23]  Jean L. Chang,et al.  Initial sequence of the chimpanzee genome and comparison with the human genome , 2005, Nature.

[24]  Tomas W. Fitzgerald,et al.  Origins and functional impact of copy number variation in the human genome , 2010, Nature.

[25]  David N. Messina,et al.  Evolutionary and Biomedical Insights from the Rhesus Macaque Genome , 2007, Science.

[26]  Peter H. Sudmant,et al.  Diversity of Human Copy Number Variation and Multicopy Genes , 2010, Science.

[27]  M. Guyer,et al.  Charting a course for genomic medicine from base pairs to bedside , 2011, Nature.

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[30]  K. Worley,et al.  The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution , 2009, Science.

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[32]  R. Wilson,et al.  BreakDancer: An algorithm for high resolution mapping of genomic structural variation , 2009, Nature Methods.

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[34]  R. Tesh,et al.  Quaranfil, Johnston Atoll, and Lake Chad Viruses Are Novel Members of the Family Orthomyxoviridae , 2009, Journal of Virology.

[35]  Amy E. Hawkins,et al.  DNA sequencing of a cytogenetically normal acute myeloid leukemia genome , 2008, Nature.

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[38]  D. Toney,et al.  Identification of a Novel Astrovirus (Astrovirus VA1) Associated with an Outbreak of Acute Gastroenteritis , 2009, Journal of Virology.

[39]  Christian Gilissen,et al.  Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. , 2010, American journal of human genetics.

[40]  P. Stankiewicz,et al.  Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. , 2010, The New England journal of medicine.

[41]  J. Pipas,et al.  Detection of Novel Sequences Related to African Swine Fever Virus in Human Serum and Sewage , 2009, Journal of Virology.

[42]  Colin N. Dewey,et al.  Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution , 2004, Nature.

[43]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[44]  Lisa M. D'Souza,et al.  Genome sequence of the Brown Norway rat yields insights into mammalian evolution , 2004, Nature.

[45]  Miriam K. Konkel,et al.  Genome analysis of the platypus reveals unique signatures of evolution , 2008, Nature.

[46]  Zhaohui S. Qin,et al.  A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.