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Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.
Cells. 2019 Nov 26;8(12):1513. doi: 10.3390/cells8121513.
Cells. 2019.
PMID: 31779139
Free PMC article.
Review.
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
Wood KA, Rowlands CF, Thomas HB, Woods S, O'Flaherty J, Douzgou S, Kimber SJ, Newman WG, O'Keefe RT.
Wood KA, et al.
PLoS One. 2020 Jul 31;15(7):e0233582. doi: 10.1371/journal.pone.0233582. eCollection 2020.
PLoS One. 2020.
PMID: 32735620
Free PMC article.
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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; kConFab Investigators; O'Keefe RT, Hubbard S, Douglas AGL, Baralle D, Briggs TA, Ellingford JM.
Rowlands CF, et al.
Am J Hum Genet. 2022 Feb 3;109(2):210-222. doi: 10.1016/j.ajhg.2021.12.014. Epub 2022 Jan 21.
Am J Hum Genet. 2022.
PMID: 35065709
Free PMC article.
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