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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

27 Feb 2024

Abstract excerpt

BACKGROUND: Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim to harness the well-established full-length gene splicing assay (FLGSA) in conjunction with SpliceAI to prospectively interpret the splicing effects of all potential coding SNVs within the...

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PMID: 38414044
DOI: 10.1186/s40246-024-00586-9

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