Source: https://www.biorxiv.org/content/10.1101/2024.12.02.625685v1.full.pdf

A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material. #LowFrequencyVariants #SomaticMosaicism #SomaticVariants #VariantCalling #ReferenceMaterials #GiAB #Benchmarking #Genomics 🧬 🖥️ @biorxivpreprint.bsky.social
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