Investigation of the variable In(Lu) phenotype caused by KLF1 variants.

Nicole S FraserChristine M KnauthElizna M SchoemanAssia MoussaAndrew Charles PerkinsTerry WalshGlenda M MillardMelinda M DeanCatherine A Hyland Robert L P Flower

Published in: Transfusion (2018)

Different KLF1 variants may potentially produce variable phenotypes. A framework for investigating KLF1 variants and their phenotypic impact has been provided. In the future, given available international databases, further testing algorithms (as advocated here) will allow for correlation of phenotype with genotype and therefore accurately document this variability between KLF1 variants.

Keyphrases

copy number
transcription factor
machine learning
deep learning
genome wide