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

Dal, Guelsah; Erguner, Bekir; Sagiroglu, Mahmut; Yuksel, Bayram; Onat, ONUR; Alkan, Can; Ozcelik, Tayfun

doi:10.1136/jmedgenet-2013-102197

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, Scopus)

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.