Donna Werling, PhD – Slide of the Week
Title: Use of the new human telomere-to-telomere genomic reference improves variant calling and phasing in regions flanking developmental disorder-associated copy number variants Legend: Genotyping and switch error rates spike in areas flanking CNV disorder associated regions. Average error rates obtained when phasing short read variant calls from 39 individuals using either the T2T-CHM13 1KGP haplotype panel …