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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Accurate quantification of SBDS isoforms was achieved, enhancing gene expression analysis.
Transcripts quantified at low levels allowed for clearer insight into Shwachman-Diamond syndrome.
Integration of long-read and short-read sequencing methods improved transcript quantification accuracy.
The approach enables better understanding of hematologic disease gene expression and allele-specific regulation.

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Analyzed transcript quantification of SBDS in hematologic disease, suggesting improved methods for lowly expressed genes.

Cheng et al. (2025) studied this question.

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