MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

Rowlands CF., Taylor A., Rice G., Whiffin N., Hall HN., Newman WG., Black GCM., O’Keefe RT., Hubbard S., Douglas AGL., Baralle D., Briggs TA., Ellingford JM.

DOI

10.1016/j.ajhg.2021.12.014

Type

Journal article

Journal

The American Journal of Human Genetics

Publisher

Elsevier BV

Publication Date

01/2022

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