Genetic variants of PKLR are associated with acute pain in sickle cell disease

Autor: Wang, Xunde ^*, Gardner, Kate ^*, Tegegn, Mickias B. ^*, Dalgard, Clifton L., Alba, Camille, Menzel, Stephan, Patel, Hamel, Pirooznia, Mehdi, Fu, Yi-Ping, Seifuddin, Fayaz T., Thein, Swee Lay ^*

Publikováno v: In Blood Advances 14 June 2022 6(11):3535-3540

Random forest classifiers trained on simulated data enable accurate short read-based genotyping of structural variants in the alpha globin region at Chr16p13.3.

Autor: Hansen NF; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Wang X; Sickle Cell Branch, National Heart, Lung and Blood Institute, NIH, Bethesda, MD 20892, USA., Tegegn MB; Sickle Cell Branch, National Heart, Lung and Blood Institute, NIH, Bethesda, MD 20892, USA., Liu Z; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Gouveia MH; Center for Research on Genomics and Global Health, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Hill G; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Lin JC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Okulosubo T; Sickle Cell Branch, National Heart, Lung and Blood Institute, NIH, Bethesda, MD 20892, USA., Shriner D; Center for Research on Genomics and Global Health, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Thein SL; Sickle Cell Branch, National Heart, Lung and Blood Institute, NIH, Bethesda, MD 20892, USA., Mullikin JC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 27. Date of Electronic Publication: 2023 Nov 27.