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The aim was to enhance the quantification accuracy of lowly expressed SBDS isoforms using integrated sequencing methods.

December 8, 2025BloodOpen Access

Accurate quantification of lowly expressed SBDS by integrating pacbio iso-seq long-read and illumina short-read sequencing

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The aim was to enhance the quantification accuracy of lowly expressed SBDS isoforms using integrated sequencing methods.
Utilized PacBio HiFi sequencing to produce long reads for SBDS analysis.
Processed reads through protocols including demultiplexing and alignment to the human genome.
Reconstructed isoforms and improved quantification sensitivity by modifying reference transcript models.
Effectively quantified low abundance SBDS isoforms in human bone marrow samples.
Detected allelic imbalance in SBDS mutations compared to wild-types.
Confirmed presence of multiple isoforms through visualization outputs.

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Bioinformatics analysis demonstrates improved quantification of SBDS isoforms in hematologic disease, indicating better gene expression insights.

Cheng et al. (2025) studied this question.

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Bioinformatics analysis demonstrates improved quantification of SBDS isoforms in hematologic disease, indicating better gene expression insights.