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
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.
American Journal Of Human Genetics
Hu, Yao Y; Stilp, Adrienne M AM; McHugh, Caitlin P CP; Rao, Shuquan S; Jain, Deepti D; Zheng, Xiuwen X; Lane, John J; Méric de Bellefon, Sébastian S; Raffield, Laura M LM; Chen, Ming-Huei MH; Yanek, Lisa R LR; Wheeler, Marsha M; Yao, Yao Y; Ren, Chunyan C; Broome, Jai J; Moon, Jee-Young JY; de Vries, Paul S PS; Hobbs, Brian D BD; Sun, Quan Q; Surendran, Praveen P; Brody, Jennifer A JA; Blackwell, Thomas W TW; Choquet, Hélène H; Ryan, Kathleen K; Duggirala, Ravindranath R; Heard-Costa, Nancy N; Wang, Zhe Z; Chami, Nathalie N; Preuss, Michael H MH; Min, Nancy N; Ekunwe, Lynette L; Lange, Leslie A LA; Cushman, Mary M; Faraday, Nauder N; Curran, Joanne E JE; Almasy, Laura L; Kundu, Kousik K; Smith, Albert V AV; Gabriel, Stacey S; Rotter, Jerome I JI; Fornage, Myriam M; Lloyd-Jones, Donald M DM; Vasan, Ramachandran S RS; Smith, Nicholas L NL; North, Kari E KE; Boerwinkle, Eric E; Becker, Lewis C LC; Lewis, Joshua P JP; Abecasis, Goncalo R GR; Hou, Lifang L; O'Connell, Jeffrey R JR; Morrison, Alanna C AC; Beaty, Terri H TH; Kaplan, Robert R; Correa, Adolfo A; Blangero, John J; Jorgenson, Eric E; Psaty, Bruce M BM; Kooperberg, Charles C; Walton, Russell T RT; Kleinstiver, Benjamin P BP; Tang, Hua H; Loos, Ruth J F RJF; Soranzo, Nicole N; Butterworth, Adam S AS; Nickerson, Debbie D; Rich, Stephen S SS; Mitchell, Braxton D BD; Johnson, Andrew D AD; Auer, Paul L PL; Li, Yun Y; Mathias, Rasika A RA; Lettre, Guillaume G; Pankratz, Nathan N; Laurie, Cathy C CC; Laurie, Cecelia A CA; Bauer, Daniel E DE; Conomos, Matthew P MP; Reiner, Alexander P AP; ,
Publication Date: 2021-05-06
Variant appearance in text: HBB: Gln40Lys; rs11549407
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