AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity
Hannah C. Happ, Thomas A. Sasani, Derek Warner, Deborah Wood Neklason, Aaron R. Quinlan
The paper uses AVITI sequencing to analyze homopolymer mutation rates in a CEPH/Utah pedigree, confirming lower mutation rates and no significant paternal age effect compared to other STRs.
Genome biology · May 9, 2026Peer-reviewedGenomics