structural variant analysis
At ACMG, Researcher Touts Long-Read RNA-seq Bioinformatic Tool for Cancer Drug Resistance Studies
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Long-read RNA sequencing and a novel bioinformatics tool identified allele specific structural variants invisible to short-read sequencing.
Church, Shendure Labs Team up to Probe Possibilities for Structural Variants in Mammalian Genomes
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The authors of two newly published papers likened their method to Perturb-seq, except that it introduces structural variants instead of gene knockouts.
Pediatric Cancer Study Spells Out Structural Variant Risk Contributors
Researchers unearthed rare germline structural variants involved in pediatric solid tumor risk by analyzing genome sequences from patients, parents, and adult control individuals.
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.