Login / Signup

The mutational dynamics of short tandem repeats in large, multigenerational families.

Cody J SteelyW Scott WatkinsLisa BairdLynn B Jorde
Published in: Genome biology (2022)
Approximately 30% of new STR mutations occur within Alu elements, which compose only 11% of the genome, but only 10% are found in LINE-1 insertions, which compose 17% of the genome. Phasing these mutations to the parent of origin shows that parental transmission biases vary among families. We estimate the average number of de novo genome-wide STR mutations per individual to be approximately 85, which is similar to the average number of observed de novo single nucleotide variants.
Keyphrases
  • genome wide
  • copy number
  • dna methylation