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Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic. #SomaticVariants #ShortReads #LongReads #VariantCalling #Genomics #Bioinformatics #ToolsBenchmarking #ReferenceDatasets @natbiotech.nature.com 🧬 🖥️
www.nature.com/articles/s41...
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A recurrent sequencing artifact on Illumina sequencers with two-color fluorescent dye chemistry and its impact on somatic variant detection. #ShortRead #Sequencing #TwoColorSequencing #SomaticVariants @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...
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
www.biorxiv.org/content/10.1...
