structural variant analysis
Consortium Catalogs Complex Structural Variation in Human Genomes With Hybrid Long-Read Assembly
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The Human Genome Structural Variation Consortium recently released a new variant database generated from 65 nearly complete human genomes with T2T status.
Leukemia Subclones, Treatment Targets Spelled Out in Single-Cell Multiomics Study
Researchers teased out structural variants, intratumoral heterogeneity, and tumor subclone evolution in complex karyotype acute myeloid leukemia.
Lung Cancer Study Suggests Concurrent RNA, DNA Testing Picks up Actionable SVs
RNA sequencing unearthed actionable structural variants missed with DNA-only sequencing based on tumor assays on 5,570 advanced non-small cell lung cancer cases.
Illumina's Dragen Outperforms Broad GATK, Google DeepVariant in Variant Analysis Benchmarking Study
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Illumina's latest Dragen pipeline brings pangenome-based variant analysis to the masses, though the change will be invisible to most users.
Mycobacterium Tuberculosis Genomes Provide Resistance, Outcome Clues
With genome sequences for 1,960 clinical isolates, researchers searched for small to large M. tuberculosis genetic variants influencing drug resistance and patient outcomes.