Posts Tagged ‘Bioinformatics’
Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies.
Link: https://doi.org/S0085-2538(22)00454-9 Authors: Gorski, Mathias; Rasheed, Humaira; Teumer, Alexander; Thomas, Laurent F; Graham, Sarah E; Sveinbjornsson, Gardar; Winkler, Thomas W; Günther, Felix; Stark, Klaus J; Chai, Jin-Fang; Tayo, Bamidele O; Wuttke, Matthias; Li, Yong; Tin, Adrienne; Ahluwalia, Tarunveer S; Ärnlöv, Johan; Åsvold, Bjørn Olav; Bakker, Stephan J L; Banas, Bernhard; Bansal, Nisha; Biggs, Mary L;…
Read MoreInsights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.
Link: https://doi.org/10.1161/HYPERTENSIONAHA.122.19324 Authors: Kelly, Tanika N; Sun, Xiao; He, Karen Y; Brown, Michael R; Taliun, Sarah A Gagliano; Hellwege, Jacklyn N; Irvin, Marguerite R; Mi, Xuenan; Brody, Jennifer A; Franceschini, Nora; Guo, Xiuqing; Hwang, Shih-Jen; de Vries, Paul S; Gao, Yan; Moscati, Arden; Nadkarni, Girish N; Yanek, Lisa R; Elfassy, Tali; Smith, Jennifer A; Chung,…
Read MoreDesign and rationale of GUARDD-US: A pragmatic, randomized trial of genetic testing for APOL1 and pharmacogenomic predictors of antihypertensive efficacy in patients with hypertension.
Link: https://doi.org/S1551-7144(22)00139-2 Authors: Eadon, Michael T; Cavanaugh, Kerri L; Orlando, Lori A; Christian, David; Chakraborty, Hrishikesh; Steen-Burrell, Kady-Ann; Merrill, Peter; Seo, Janet; Hauser, Diane; Singh, Rajbir; Beasley, Cherry Maynor; Fuloria, Jyotsna; Kitzman, Heather; Parker, Alexander S; Ramos, Michelle; Ong, Henry H; Elwood, Erica N; Lynch, Sheryl E; Clermont, Sabrina; Cicali, Emily J; Starostik, Petr; Pratt,…
Read MoreProteomic Analyses Unveil Actionable Disease Pathways in COVID-19: A Step Toward Targeted Therapies.
Link: https://doi.org/10.1016/j.jacbts.2022.03.011 Authors: Vasquez-Rios, George; Nadkarni, Girish N Abstract:
Read MoreMulti-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.
Link: https://doi.org/10.1038/s41588-022-01058-3 Authors: Mahajan, Anubha; Spracklen, Cassandra N; Zhang, Weihua; Ng, Maggie C Y; Petty, Lauren E; Kitajima, Hidetoshi; Yu, Grace Z; Rüeger, Sina; Speidel, Leo; Kim, Young Jin; Horikoshi, Momoko; Mercader, Josep M; Taliun, Daniel; Moon, Sanghoon; Kwak, Soo-Heon; Robertson, Neil R; Rayner, Nigel W; Loh, Marie; Kim, Bong-Jo; Chiou, Joshua; Miguel-Escalada, Irene; Della…
Read MoreWhole-genome sequencing reveals host factors underlying critical COVID-19.
Link: https://doi.org/10.1038/s41586-022-04576-6 Authors: Kousathanas, Athanasios; Pairo-Castineira, Erola; Rawlik, Konrad; Stuckey, Alex; Odhams, Christopher A; Walker, Susan; Russell, Clark D; Malinauskas, Tomas; Wu, Yang; Millar, Jonathan; Shen, Xia; Elliott, Katherine S; Griffiths, Fiona; Oosthuyzen, Wilna; Morrice, Kirstie; Keating, Sean; Wang, Bo; Rhodes, Daniel; Klaric, Lucija; Zechner, Marie; Parkinson, Nick; Siddiq, Afshan; Goddard, Peter; Donovan, Sally; Maslove,…
Read MoreIncidence, prevalence and mortality of chronic periaortitis: a population-based study.
Link: https://doi.org/10.55563/clinexprheumatol/0v8l4j Authors: Koster, Matthew J; Ghaffar, Umar; Duong, Stephanie Q; Crowson, Cynthia S; Burke, Michelle M; Viers, Boyd R; Potretzke, Aaron M; Bjarnason, Haraldur; Warrington, Kenneth J Abstract: To evaluate the epidemiology, presentation and outcomes of patients with chronic periaortitis from 1998 through 2018. An inception cohort of patients with incident chronic periaortitis from…
Read MoreClinical Utility of KidneyIntelX in Early Stages of Diabetic Kidney Disease in the CANVAS Trial.
Link: https://doi.org/10.1159/000519920 Authors: Lam, David; Nadkarni, Girish N; Mosoyan, Gohar; Neal, Bruce; Mahaffey, Kenneth W; Rosenthal, Norman; Hansen, Michael K; Heerspink, Hiddo J L; Fleming, Fergus; Coca, Steven G Abstract: KidneyIntelX is a composite risk score, incorporating biomarkers and clinical variables for predicting progression of diabetic kidney disease (DKD). The utility of this score in…
Read MoreThe power of genetic diversity in genome-wide association studies of lipids.
Link: https://doi.org/10.1038/s41586-021-04064-3 Authors: Graham, Sarah E; Clarke, Shoa L; Wu, Kuan-Han H; Kanoni, Stavroula; Zajac, Greg J M; Ramdas, Shweta; Surakka, Ida; Ntalla, Ioanna; Vedantam, Sailaja; Winkler, Thomas W; Locke, Adam E; Marouli, Eirini; Hwang, Mi Yeong; Han, Sohee; Narita, Akira; Choudhury, Ananyo; Bentley, Amy R; Ekoru, Kenneth; Verma, Anurag; Trivedi, Bhavi; Martin, Hilary C;…
Read MoreIdentification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Link: https://doi.org/S0002-9297(21)00384-0 Authors: Sevim Bayrak, Cigdem; Stein, David; Jain, Aayushee; Chaudhary, Kumardeep; Nadkarni, Girish N; Van Vleck, Tielman T; Puel, Anne; Boisson-Dupuis, Stephanie; Okada, Satoshi; Stenson, Peter D; Cooper, David N; Schlessinger, Avner; Itan, Yuval Abstract: Identifying whether a given genetic mutation results in a gene product with increased (gain-of-function; GOF) or diminished (loss-of-function; LOF)…
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