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The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.

Anna ByrjalsenUlrik StoltzeMana MehrjouyJane Hübertz FrederiksenMads BakUlf BirkedalHenrik HasleAnne-Marie GerdesKjeld SchmiegelowKarin WadtThomas van Overeem Hansen
Published in: Molecular genetics & genomic medicine (2023)
We propose to include RNA analysis in classification of single-exon deletions, especially if located outside of known functional domains, as this can identify any disparate effects on the RNA and DNA level, which may have implications for variant classification using the American College of Medical Genetics and Genomics guidelines.
Keyphrases
  • deep learning
  • machine learning
  • nucleic acid
  • healthcare
  • single molecule
  • cell free