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Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer

Somatic mutations within non-coding regions and even exons may have unidentified regulatory consequences that are often overlooked in analysis workflows. Here we present RegTools (www.regtools.org), a computationally efficient, free, and open-source software package designed to integrate somatic var...

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Detalles Bibliográficos
Autores principales: Cotto, Kelsy C., Feng, Yang-Yang, Ramu, Avinash, Richters, Megan, Freshour, Sharon L., Skidmore, Zachary L., Xia, Huiming, McMichael, Joshua F., Kunisaki, Jason, Campbell, Katie M., Chen, Timothy Hung-Po, Rozycki, Emily B., Adkins, Douglas, Devarakonda, Siddhartha, Sankararaman, Sumithra, Lin, Yiing, Chapman, William C., Maher, Christopher A., Arora, Vivek, Dunn, Gavin P., Uppaluri, Ravindra, Govindan, Ramaswamy, Griffith, Obi L., Griffith, Malachi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10033906/
https://www.ncbi.nlm.nih.gov/pubmed/36949070
http://dx.doi.org/10.1038/s41467-023-37266-6

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