Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornells L. Harteveld, Celeste Bento, Joanne Traeger-Synodinos, Irene Fylaktou, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Hashim Halim-Fikri, Bin Alwi Zilfalil, Andrea C. Kakouri, ClinGen Hemoglobinopathy VCEP, Marina Kleanthous, Petros Kountouris
bioRxiv 2022.04.07.484934; doi: https://doi.org/10.1101/2022.04.07.484934