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...

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Detalles Bibliográficos
Autores principales: Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Papers
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

Internet

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

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