Utah Genome Project Platinum Plus Homopolymers
We used the Element Biosciences AVITI platform to sequence the genomes of a 48-member, four-generation CEPH/Utah pedigree. The AVITI platform reduces error rates at repetitive sequences compared to Illumina, allowing accurate mutation discovery at 90% of assayed homopolymer loci and a 1.7-fold increase in discoverable de novo mutations (DNMs). We identified a median of 35 homopolymer DNMs per trio and a mutation rate of 5.28 x 10-5 DNMs per locus per generation. Parent-of-origin analysis revealed 78% of homopolymer mutations are paternal in origin. Data from 41 members of the pedigree are available with controlled access through dbGaP.