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Article

Full-length transcript characterization of SF3B1 mutation in chronic lymphocytic leukemia reveals downregulation of retained introns.

Nature communications - 18 Mar 2020

Tang Alison D, Soulette Cameron M, van Baren Marijke J, Hart Kevyn, Hrabeta-Robinson Eva, Wu Catherine J, Brooks Angela N

Abstract excerpt

While splicing changes caused by somatic mutations in SF3B1 are known, identifying full-length isoform changes may better elucidate the functional consequences of these mutations. We report nanopore sequencing of full-length cDNA from CLL samples with and without SF3B1 mutation, as well as normal B cell samples, giving a total of 149 million pass reads. We present FLAIR (Full-Length Alternative Isoform analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32188845
DOI: 10.1038/s41467-020-15171-6
PMCID: PMC7080807

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