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., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.51, sa.7, ss.455-459, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 51 Sayı: 7
Basım Tarihi: 2014
Doi Numarası: 10.1136/jmedgenet-2013-102197
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.455-459
Anahtar Kelimeler: Developmental, Genetics, Mutation rate, Early post-zygotic, Mosaicism, PRIMER DESIGN, GENOME, MOSAICISM, PROGRAM, RATES
Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.