Pedigree-based estimation of human mobile element retrotransposition rates

• Published in: Genome research Vol. 29; no. 10; pp. 1567 - 1577
• Main Authors: Feusier, Julie, Watkins, W Scott, Thomas, Jainy, Farrell, Andrew, Witherspoon, David J, Baird, Lisa, Ha, Hongseok, Xing, Jinchuan, Jorde, Lynn B
• Format: Journal Article
• Language: English
• Published: United States Cold Spring Harbor Laboratory Press 01.10.2019
• Subjects: Alu elements; Alu Elements - genetics; Animals; Births; Blood; Embryogenesis; Female; Gametogenesis; Genomes; Hominidae - blood; Hominidae - genetics; Humans; Interspersed Repetitive Sequences - genetics; Long Interspersed Nucleotide Elements - genetics; Male; Mutation; Mutation rates; Nucleotide sequence; Pedigree; Phylogeny; Polymorphism, Single Nucleotide - genetics; Retroelements - genetics; Retrotransposition; Statistical analysis; Whole Genome Sequencing

Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1, , and SVA. We used three tools for calli...