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- W4385799536 abstract "Abstract Genomic variants affecting pre-messenger RNA splicing and its regulation are known to underlie many rare genetic diseases. However, common workflows for genetic diagnosis and clinical variant interpretation frequently overlook splice-altering variants. To better serve patient populations and advance biomedical knowledge, it has become increasingly important to develop and refine approaches for detecting and interpreting pathogenic splicing variants. In this review, we will summarize a few recent developments and challenges in using RNA sequencing technologies for rare disease investigation. Moreover, we will discuss how recent computational splicing prediction tools have emerged as complementary approaches for revealing disease-causing variants underlying splicing defects. We speculate that continuous improvements to sequencing technologies and predictive modeling will not only expand our understanding of splicing regulation but also bring us closer to filling the diagnostic gap for rare disease patients." @default.
- W4385799536 created "2023-08-15" @default.
- W4385799536 creator A5012179877 @default.
- W4385799536 creator A5024600926 @default.
- W4385799536 creator A5031562463 @default.
- W4385799536 creator A5032677320 @default.
- W4385799536 creator A5087568641 @default.
- W4385799536 date "2023-08-14" @default.
- W4385799536 modified "2023-10-14" @default.
- W4385799536 title "Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis" @default.
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