Article
A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.
Blood advances - 27 Jul 2021
Rampersaud Evadnie, Kang Guolian, Palmer Lance E, Rashkin Sara R, Wang Shuoguo, Bi Wenjian, Alberts Nicole M, Anghelescu Doralina, Barton Martha, Birch Kirby, Boulos Nidal, Brandow Amanda M, Brooke Russell John, Chang Ti-Cheng, Chen Wenan, Cheng Yong, Ding Juan, Easton John, Hodges Jason R, Kanne Celeste K, Levy Shawn, Mulder Heather, Patel Ashwin P, Puri Latika, Rosencrance Celeste, Rusch Michael, Sapkota Yadav, Sioson Edgar, Sharma Akshay, Tang Xing, Thrasher Andrew, Wang Winfred, Yao Yu, Yasui Yutaka, Yergeau Donald, Hankins Jane S, Sheehan Vivien A, Downing James R, Estepp Jeremie H, Zhang Jinghui, DeBaun Michael, Wu Gang, Weiss Mitchell J
Abstract excerpt
Individuals with monogenic disorders can experience variable phenotypes that are influenced by genetic variation. To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals with hemoglobin HbSS or HbSβ0-thalassemia from Baylor College of Medicine and from the St. Jude Children's Research Hospital Sickle Cell Clinical Research and Intervention Program (SCCRIP)...
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