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LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
MOTIVATION: Next-generation sequencing is rapidly improving diagnostic rates in rare Mendelian diseases, but even with whole genome or whole exome sequencing, the majority of cases remain unsolved. Increasingly, RNA sequencing is being used to solve many cases that evade diagnosis through sequencing...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750945/ https://www.ncbi.nlm.nih.gov/pubmed/32315392 http://dx.doi.org/10.1093/bioinformatics/btaa259 |