Jan 9, 2025 Our work, which provides a framework for developing a registry of splice-site-creating variants through the screening of over 300,000 transcriptome sequencing datasets, has been published in Nature Communications. Dec 6, 2024 Our study on predicting NRF2-related mutation status from the splicing landscape has been published in npj Systems Biology and Applications. Feb 17, 2024 Our work on the development of an analysis workflow for nanopore adaptive sampling and its application to hereditary cancer patients was published in npj Genomic Medicine. Jun 20, 2023 Our work on detecting somatic complex structural variations from tumor/control paired long-read sequencing data was published in Nucleic Acids Research. Feb 9, 2023 Uploading new version of our preprint on the software for detecting somatic complex structural variations from paired long-read sequencing data.
