Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.

Chattree HantaweepantBhoom SuktitipatManop PithukpakornYingyong ChinthammitrChanin LimwongseNawaporn TansiriSurasak SawatnateeChayamon TakpraditWannaphorn RotchanapanyaSaranya PongudomKanyaporn CharoenprasertKittiphong PaiboonsukwongWichuda ThamprasertNarumol NolwachaiWanlapa RattanasawatBusakorn Sae-AengNisachon KhorwanichakijPutchong SaetowSupawee SaengboonKrittichat KamjornpreechaWikanda PholmooBoonyanuch DujjawanNoppadol Siritanaratkul

Published in: Hematology (Amsterdam, Netherlands) (2023)

mutations are potential genetic modifiers. Studies to identify genetic factors are still important and helpful for predicting severity and developing targeted therapy.

Keyphrases

genome wide
copy number
dna methylation
gene expression
climate change
case control