Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair


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Dal G. M. , Erguner B., Sagiroglu M. S. , Yuksel B., Onat O. E. , Alkan C., ...More

JOURNAL OF MEDICAL GENETICS, vol.51, no.7, pp.455-459, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 7
  • Publication Date: 2014
  • Doi Number: 10.1136/jmedgenet-2013-102197
  • Title of Journal : JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.455-459

Abstract

Background Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70x10(-8) mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de novo SNV rate is unknown.