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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations of splicing variant identifi...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411123/ https://www.ncbi.nlm.nih.gov/pubmed/36008414 http://dx.doi.org/10.1038/s41525-022-00323-y |