Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies.
Elife
Tamana, Stella S; Xenophontos, Maria M; Minaidou, Anna A; Stephanou, Coralea C; Harteveld, Cornelis L CL; Bento, Celeste C; Traeger-Synodinos, Joanne J; Fylaktou, Irene I; Yasin, Norafiza Mohd NM; Abdul Hamid, Faidatul Syazlin FS; Esa, Ezalia E; Halim-Fikri, Hashim H; Zilfalil, Bin Alwi BA; Kakouri, Andrea C AC; , ; Kleanthous, Marina M; Kountouris, Petros P
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Scientific Reports
Kuchenbaecker, Karoline K; Gilly, Arthur A; Suveges, Daniel D; Southam, Lorraine L; Giannakopoulou, Olga O; Kilian, Britt B; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Farmaki, Aliki-Eleni AE; Gurdasani, Deepti D; Kundu, Kousik K; Sandhu, Manjinder S MS; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Dedoussis, George G; Zeggini, Eleftheria E
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Scientific Reports
Kuchenbaecker, Karoline K; Gilly, Arthur A; Suveges, Daniel D; Southam, Lorraine L; Giannakopoulou, Olga O; Kilian, Britt B; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Farmaki, Aliki-Eleni AE; Gurdasani, Deepti D; Kundu, Kousik K; Sandhu, Manjinder S MS; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Dedoussis, George G; Zeggini, Eleftheria E
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
Nature Genetics
Zhou, Wei W; Nielsen, Jonas B JB; Fritsche, Lars G LG; Dey, Rounak R; Gabrielsen, Maiken E ME; Wolford, Brooke N BN; LeFaive, Jonathon J; VandeHaar, Peter P; Gagliano, Sarah A SA; Gifford, Aliya A; Bastarache, Lisa A LA; Wei, Wei-Qi WQ; Denny, Joshua C JC; Lin, Maoxuan M; Hveem, Kristian K; Kang, Hyun Min HM; Abecasis, Goncalo R GR; Willer, Cristen J CJ; Lee, Seunggeun S
High-density SNP genotyping to define beta-globin locus haplotypes.
Blood Cells, Molecules & Diseases
Liu, Li L; Muralidhar, Shalini S; Singh, Manisha M; Sylvan, Caprice C; Kalra, Inderdeep S IS; Quinn, Charles T CT; Onyekwere, Onyinye C OC; Pace, Betty S BS