* The authors introduce "stratifications," or specific BED files, that outline different genomic contexts for GRCh37/38 and the new T2T-CHM13 reference, which includes previously challenging regions to sequence.
* They also compare the performance of sequencing benchmarks across these references, showing how difficult regions in CHM13 impact the overall performance, and provide a snakemake pipeline for generating stratifications to aid in optimizing sequencing platforms.
In October 2021, 59 scientists from 14 countries and 13 U.S. states collaborated virtually in the Third Annual Baylor College of Medicine & DNANexus Structural Variation hackathon.