Publications by authors named "Philippe Sanio"

Article Synopsis
  • * 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.
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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.

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