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

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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 7
  • Publication Date: 2014
  • Doi Number: 10.1136/jmedgenet-2013-102197
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.455-459
  • Keywords: Developmental, Genetics, Mutation rate, Early post-zygotic, Mosaicism, PRIMER DESIGN, GENOME, MOSAICISM, PROGRAM, RATES
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

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.