Prognostic value of polygenic risk scores for adults with psychosis.

By Amir Safavi | September 6, 2021 |

Link: https://doi.org/10.1038/s41591-021-01475-7 Authors: Landi, Isotta; Kaji, Deepak A; Cotter, Liam; Van Vleck, Tielman; Belbin, Gillian; Preuss, Michael; Loos, Ruth J F; Kenny, Eimear; Glicksberg, Benjamin S; Beckmann, Noam D; O’Reilly, Paul; Schadt, Eric E; Achtyes, Eric D; Buckley, Peter F; Lehrer, Douglas; Malaspina, Dolores P; McCarroll, Steven A; Rapaport, Mark H; Fanous, Ayman H; Pato,…

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Phe2vec: Automated disease phenotyping based on unsupervised embeddings from electronic health records.

By Amir Safavi | September 2, 2021 |

Link: https://doi.org/10.1016/j.patter.2021.100337 Authors: De Freitas, Jessica K; Johnson, Kipp W; Golden, Eddye; Nadkarni, Girish N; Dudley, Joel T; Bottinger, Erwin P; Glicksberg, Benjamin S; Miotto, Riccardo Abstract: Robust phenotyping of patients from electronic health records (EHRs) at scale is a challenge in clinical informatics. Here, we introduce Phe2vec, an automated framework for disease phenotyping from…

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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

By Amir Safavi | July 28, 2021 |

Link: https://doi.org/10.1161/CIRCGEN.120.003300 Authors: Choi, Seung Hoan; Jurgens, Sean J; Haggerty, Christopher M; Hall, Amelia W; Halford, Jennifer L; Morrill, Valerie N; Weng, Lu-Chen; Lagerman, Braxton; Mirshahi, Tooraj; Pettinger, Mary; Guo, Xiuqing; Lin, Henry J; Alonso, Alvaro; Soliman, Elsayed Z; Kornej, Jelena; Lin, Honghuang; Moscati, Arden; Nadkarni, Girish N; Brody, Jennifer A; Wiggins, Kerri L; Cade,…

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The trans-ancestral genomic architecture of glycemic traits.

By Amir Safavi | May 31, 2021 |

Link: https://doi.org/10.1038/s41588-021-00852-9 Authors: Chen, Ji; Spracklen, Cassandra N; Marenne, Gaëlle; Varshney, Arushi; Corbin, Laura J; Luan, Jian’an; Willems, Sara M; Wu, Ying; Zhang, Xiaoshuai; Horikoshi, Momoko; Boutin, Thibaud S; Mägi, Reedik; Waage, Johannes; Li-Gao, Ruifang; Chan, Kei Hang Katie; Yao, Jie; Anasanti, Mila D; Chu, Audrey Y; Claringbould, Annique; Heikkinen, Jani; Hong, Jaeyoung; Hottenga, Jouke-Jan;…

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Genetic discovery and risk characterization in type 2 diabetes across diverse populations.

By Amir Safavi | March 9, 2021 |

Link: https://doi.org/10.1016/j.xhgg.2021.100029 Authors: Polfus, Linda M; Darst, Burcu F; Highland, Heather; Sheng, Xin; Ng, Maggie C Y; Below, Jennifer E; Petty, Lauren; Bien, Stephanie; Sim, Xueling; Wang, Wei; Fontanillas, Pierre; Patel, Yesha; , ; , ; , ; Preuss, Michael; Schurmann, Claudia; Du, Zhaohui; Lu, Yingchang; Rhie, Suhn K; Mercader, Joseph M; Tusie-Luna, Teresa; González-Villalpando,…

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Self-reported health without clinically measurable benefits among adult users of multivitamin and multimineral supplements: a cross-sectional study.

By Amir Safavi | November 4, 2020 |

Link: https://doi.org/10.1136/bmjopen-2020-039119 Authors: Paranjpe, Manish D; Chin, Alfred C; Paranjpe, Ishan; Reid, Nicholas J; Duy, Phan Q; Wang, Jason K; O’Hagan, Ross; Arzani, Artine; Haghdel, Arsalan; Lim, Clarence C; Orhurhu, Vwaire; Urits, Ivan; Ngo, Anh L; Glicksberg, Benjamin S; Hall, Kathryn T; Mehta, Darshan; Cooper, Richard S; Nadkarni, Girish N Abstract: Multiple clinical trials fail…

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Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.

By Amir Safavi | October 31, 2020 |

Link: https://doi.org/S0085-2538(20)31239-4 Authors: Gorski, Mathias; Jung, Bettina; Li, Yong; Matias-Garcia, Pamela R; Wuttke, Matthias; Coassin, Stefan; Thio, Chris H L; Kleber, Marcus E; Winkler, Thomas W; Wanner, Veronika; Chai, Jin-Fang; Chu, Audrey Y; Cocca, Massimiliano; Feitosa, Mary F; Ghasemi, Sahar; Hoppmann, Anselm; Horn, Katrin; Li, Man; Nutile, Teresa; Scholz, Markus; Sieber, Karsten B; Teumer, Alexander;…

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Conversion of Urine Protein-Creatinine Ratio or Urine Dipstick Protein to Urine Albumin-Creatinine Ratio for Use in Chronic Kidney Disease Screening and Prognosis : An Individual Participant-Based Meta-analysis.

By Amir Safavi | July 14, 2020 |

Link: https://doi.org/10.7326/M20-0529 Authors: Sumida, Keiichi; Nadkarni, Girish N; Grams, Morgan E; Sang, Yingying; Ballew, Shoshana H; Coresh, Josef; Matsushita, Kunihiro; Surapaneni, Aditya; Brunskill, Nigel; Chadban, Steve J; Chang, Alex R; Cirillo, Massimo; Daratha, Kenn B; Gansevoort, Ron T; Garg, Amit X; Iacoviello, Licia; Kayama, Takamasa; Konta, Tsuneo; Kovesdy, Csaba P; Lash, James; Lee, Brian J;…

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Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis.

By Amir Safavi | June 12, 2020 |

Link: https://doi.org/S0085-2538(20)30641-4 Authors: Paranjpe, Ishan; Tsao, Noah; Judy, Renae; Paranjpe, Manish; Chaudhary, Kumardeep; Klarin, Derek; Forrest, Iain; O’Hagan, Ross; Kapoor, Arjun; Pfail, John; Jaladanki, Suraj; Chaudhry, Fayzan; Vaid, Akhil; Duy, Phan Q; , ; , ; He, John Cijiang; Glicksberg, Benjamin S; Coca, Steven G; Gupta, Mantu; Do, Ron; Damrauer, Scott M; Nadkarni, Girish N…

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