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) identifier identifier identifier

  • 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.