Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults

Clonal haematopoiesis is thought to be a rare condition that increases in frequency with age and predisposes individuals to haematological malignancy. Recent studies, utilizing next-generation sequencing (NGS), observed haematopoietic clones in 10% of 70-year olds and rarely in younger individuals. However, these studies could only detect common haematopoietic clones->0.02 variant allele fraction (VAF)-due to the error rate of NGS. To identify and characterize clonal mutations below this threshold, here we develop methods for targeted error-corrected sequencing, which enable the accurate detection of clonal mutations as rare as 0.0003 VAF. We apply these methods to study serially banked peripheral blood…

• CD
  Children's Discovery Institute

  Award: MC-II-2015-461
• NI
  National Institutes of Health

  Awards: CA186107, UM1 CA186107, R01 CA49449, R01 CA149445
• HH
  Hyundai Hope On Wheels

  Award: 2015Q3-3