Understanding genetic variation and function- the applications of next generation sequencing

Semin Cell Dev Biol. 2012 Apr;23(2):230-6. doi: 10.1016/j.semcdb.2012.01.006. Epub 2012 Jan 20.

Abstract

Next generation sequencing (NGS) technology has had a transformatory effect upon population-level studies linking genetic variation to gene function. In this review, I briefly describe recent studies that have used top-down genome scanning and population genetic approaches to identify loci under recent selection, as well as some examples of how large NGS datasets can be deployed to detect the total level of deleterious, neutral and advantageous variation present in standing genetic variation. I then explore studies that have used some of these approaches to study gene function along with advances in sequencing populations under selection, QTL mapping techniques and emerging methodologies utilising targeted capture and NGS.

Publication types

  • Review

MeSH terms

  • Animals
  • Chromosome Mapping / methods*
  • Chromosomes / genetics
  • DNA / analysis
  • DNA / genetics
  • Evolution, Molecular
  • Gene Frequency
  • Genetic Variation*
  • Genetics, Population*
  • Genome
  • Genomics / methods*
  • Humans
  • Quantitative Trait Loci
  • Selection, Genetic
  • Sequence Analysis, DNA / methods

Substances

  • DNA