Publications by authors named "Hector Del Risco"

Article Synopsis
  • Recent advancements in long-read sequencing technology improve the accuracy of identifying full-length transcripts compared to short-read RNA-Seq data.
  • tappAS is introduced as the first framework for a comprehensive analysis called Functional Iso-Transcriptomics (FIT), focusing on understanding the functional effects of specific post-transcriptional regulations.
  • The tappAS framework integrates detailed isoform annotation and innovative analysis tools to explore the functional implications of different transcript variants and their regulation, with its software available online.
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High-throughput sequencing of full-length transcripts using long reads has paved the way for the discovery of thousands of novel transcripts, even in well-annotated mammalian species. The advances in sequencing technology have created a need for studies and tools that can characterize these novel variants. Here, we present SQANTI, an automated pipeline for the classification of long-read transcripts that can assess the quality of data and the preprocessing pipeline using 47 unique descriptors.

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