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How next-generation sequencing is transforming complex disease genetics.
Journal article

How next-generation sequencing is transforming complex disease genetics.

  • Kilpinen H Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
  • Barrett JC
  • 2012-10-30
Published in:
  • Trends in genetics : TIG. - 2013
Databases, Genetic
Genetic Association Studies
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genome-Wide Association Study
Genomics
High-Throughput Nucleotide Sequencing
Human Genome Project
Humans
Linkage Disequilibrium
English Progress in understanding the genetics of human disease is closely tied to technological developments in DNA sequencing. Recently, next-generation technology has transformed the scale of sequencing; compared to the methods used in the Human Genome Project, modern sequencers are 50000-fold faster. Complex disease genetics presents an immediate opportunity to use this technology to move from approaches using only partial information (linkage and genome-wide association studies, GWAS) to complete analysis of the relationship between genomic variation and phenotype. We first describe sequence-based improvements to existing study designs, followed by prioritization of both samples and genomic regions to be sequenced, and then address the ultimate goal of analyzing thousands of whole-genome sequences. Finally, we discuss how the same technology will also fundamentally change the way we understand the biological mechanisms underlying disease associations discovered through sequencing.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/118013
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