Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 88 Records) |
| Query Trace: Biobanks[original query] |
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Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.
Nature communications 2023 2 14 (1): 668. Khunsriraksakul Chachrit, Li Qinmengge, Markus Havell, Patrick Matthew T, Sauteraud Renan, McGuire Daniel, Wang Xingyan, Wang Chen, Wang Lida, Chen Siyuan, Shenoy Ganesh, Li Bingshan, Zhong Xue, Olsen Nancy J, Carrel Laura, Tsoi Lam C, Jiang Bibo, Liu Dajiang |
| The Validity of Brief Phenotyping in Population Biobanks for Psychiatric Genome-Wide Association Studies on the Biobank Scale. Complex psychiatry 2021 12 7 (1-2): 11-15. Coleman Jonathan R |
| The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants. Bioinformatics (Oxford, England) 2022 9 38 (21): 4972-4974. Aref Layla, Bastarache Lisa, Hughey Jacob |
| Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks. Molecular genetics and metabolism reports 2022 9 33 100911. Pehrsson Minja, Heikkinen Hanna, Wartiovaara-Kautto Ulla, Mäntylahti Sampo, Bäckström Pia, Lassenius Mariann I, Uusi-Rauva Kristiina, Carpén Olli, Elomaa Kai |
| Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank. Genome medicine 2022 8 14 (1): 85. Patrick Matthew T, Bardhi Redina, Zhou Wei, Elder James T, Gudjonsson Johann E, Tsoi Lam |
| Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting. Frontiers in genetics 2022 8 13 881100. Jürgens Hannes, Roht Laura, Leitsalu Liis, Nõukas Margit, Palover Marili, Nikopensius Tiit, Reigo Anu, Kals Mart, Kallak Kersti, Kütner Riina, Budrikas Kai, Kuusk Saskia, Valvere Vahur, Laidre Piret, Toome Kadri, Rekker Kadri, Tooming Mikk, Ülle Murumets , Kahre Tiina, Kruuv-Käo Krista, Õunap Katrin, Padrik Peeter, Metspalu Andres, Esko Tõnu, Fischer Krista, Tõnisson Nee |
| An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America 2022 8 119 (33): e2114734119. Olinger Eric, Schaeffer Céline, Kidd Kendrah, Elhassan Elhussein A E, Cheng Yurong, Dufour Inès, Schiano Guglielmo, Mabillard Holly, Pasqualetto Elena, Hofmann Patrick, Fuster Daniel G, Kistler Andreas D, Wilson Ian J, Kmoch Stanislav, Raymond Laure, Robert Thomas, , Eckardt Kai-Uwe, Bleyer Anthony J, Köttgen Anna, Conlon Peter J, Wiesener Michael, Sayer John A, Rampoldi Luca, Devuyst Olivi |
| Association Between Telomere Length and Skin Cancer and Aging: A Mendelian Randomization Analysis. Frontiers in genetics 2022 7 13 931785. Son Nannan, Cui Yankun, Xi Wa |
| Analyzing human knockouts to validate GPR151 as a therapeutic target for reduction of body mass index. PLoS genetics 2022 4 18 (4): e1010093. Gurtan Allan, Dominy John, Khalid Shareef, Vong Linh, Caplan Shari, Currie Treeve, Richards Sean, Lamarche Lindsey, Denning Daniel, Shpektor Diana, Gurinovich Anastasia, Rasheed Asif, Hameed Shahid, Saeed Subhan, Saleem Imran, Jalal Anjum, Abbas Shahid, Sultana Raffat, Rasheed Syed Zahed, Memon Fazal-Ur-Rehman, Shah Nabi, Ishaq Mohammad, Khera Amit V, Danesh John, Frossard Philippe, Saleheen Dani |
| Leveraging large observational studies to discover genetic determinants of drug concentrations: A proof-of-concept study. Clinical and translational science 2022 2 15 (4): 1063-1073. Meloche Maxime, Leclair Grégoire, Jutras Martin, Oussaïd Essaïd, Gaulin Marie-Josée, Mongrain Ian, Busseuil David, Tardif Jean-Claude, Dubé Marie-Pierre, de Denus Sim |
| Genetic associations of protein-coding variants in human disease. Nature 2022 Feb . Sun Benjamin B, Kurki Mitja I, Foley Christopher N, Mechakra Asma, Chen Chia-Yen, Marshall Eric, Wilk Jemma B, , Chahine Mohamed, Chevalier Philippe, Christé Georges, , Palotie Aarno, Daly Mark J, Runz Hei |
| Pharmacogenetics of warfarin and healthcare costs - Real-world data analysis. Pharmacoepidemiology and drug safety 2022 12 32 (3): 382-386. Lähteenmäki Jaakko, Vuorinen Anna-Leena, Lehto Mika, Niemi Mikko, Forsberg Markus |
| Assessment of the genetic and clinical determinants of hip fracture risk: Genome-wide association and Mendelian randomization study.
Cell reports. Medicine 2022 10 3 (10): 100776. Nethander Maria, Coward Eivind, Reimann Ene, Grahnemo Louise, Gabrielsen Maiken E, Wibom Carl, , Mägi Reedik, Funck-Brentano Thomas, Hoff Mari, Langhammer Arnulf, Pettersson-Kymmer Ulrika, Hveem Kristian, Ohlsson Cla |
| Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank. JAMA psychiatry 2022 1 79 (3): 250-259. Birnbaum Rebecca, Mahjani Behrang, Loos Ruth J F, Sharp Andrew |
| Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.
Cell reports. Medicine 2022 12 3 (12): 100855. Park Joseph, MacLean Matthew T, Lucas Anastasia M, Torigian Drew A, Schneider Carolin V, Cherlin Tess, Xiao Brenda, Miller Jason E, Bradford Yuki, Judy Renae L, , Verma Anurag, Damrauer Scott M, Ritchie Marylyn D, Witschey Walter R, Rader Daniel |
| Gene-Based Analysis Reveals Sex-Specific Genetic Risk Factors of COPD.
AMIA ... Annual Symposium proceedings. AMIA Symposium 2022 3 2021 601-610. Joo Jaehyun, Himes Blan |
| Genome-wide association study of hyperthyroidism based on electronic medical record from Taiwan. Frontiers in medicine 2022 9 830621. Liu Ting-Yuan, Liao Wen-Ling, Wang Tzu-Yuan, Chan Chia-Jung, Chang Jan-Gowth, Chen Yu-Chia, Lu Hsing-Fang, Yang Hsien-Hui, Chen Shih-Yin, Tsai Fuu-J |
| Phenotypes of undiagnosed adults with actionable OTC and GLA variants. HGG advances 2023 8 4 (4): 100226. Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, , , Robert C Green, Nina B Go |
| The relationship between blood lipid and risk of psoriasis: univariable and multivariable Mendelian randomization analysis. Frontiers in immunology 2023 7 14 1174998. Zeng-Yun-Ou Zhang, Zhong-Yu Jian, Yin Tang, Wei |
| The Effects of Fatty Acids on Primary Liver Cancer: A Two-Sample Mendelian Randomization Study. Nutrition and cancer 2023 6 1-11. Yuan Liu, Jian He, Longjiao Cai, Aimin Le |
| Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals. Molecular biology and evolution 2023 6 40 (6): . Richard Ågren, Snehal Patil, Xiang Zhou, , Kristoffer Sahlholm, Svante Pääbo, Hugo Zebe |
| Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome. medRxiv : the preprint server for health sciences 2023 5 . Megan C Lancaster, Hung-Hsin Chen, M Benjamin Shoemaker, Matthew R Fleming, James T Baker, Hannah G Polikowsky, David C Samuels, Chad D Huff, Dan M Roden, Jennifer E Bel |
| Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk. International journal of molecular sciences 2023 4 24 (8): . Andrea Gelemanovi?, Tatjana ?atipovi? Ardali?, Ajka Pribisali?, Caroline Hayward, Ivana Kol?i?, Ozren Polaš |
| Multi-ancestry meta-analysis of tobacco use disorders based on electronic health record data prioritizes novel candidate risk genes and reveals associations with numerous health outcomes. medRxiv : the preprint server for health sciences 2023 4 . Toikumo Sylvanus, Jennings Mariela V, Pham Benjamin, Lee Hyunjoon, Mallard Travis T, Bianchi Sevim B, Meredith John J, Vilar-Rib Laura, Xu Heng, Hatoum Alexander S, Johnson Emma C, Pazdernik Vanessa, Jinwala Zeal, Leger Brittany S, Niarchou Maria, Ehinmowo Michael, BioBank Penn Medicine, Veteran Million, Jenkins Greg D, Batzler Anthony, Pendegraft Richard, Palmer Abraham A, Zhou Hang, Biernacka Joanna M, Coombes Brandon J, Gelernter Joel, Xu Ke, Hancock Dana B, Cox Nancy J, Smoller Jordan W, Davis Lea K, Justice Amy C, Kranzler Henry R, Kember Rachel L, Sanchez-Roige Sand |
| Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain. Pain 2023 3 . Ao Xiang, Parisien Marc, Zidan Maha, Grant Audrey V, Martinsen Amy E, Winsvold Bendik S, Diatchenko Lu |
| Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection. medRxiv : the preprint server for health sciences 2023 2 . Liu Aoxing, Genovese Giulio, Zhao Yajie, Pirinen Matti, Zekavat Maryam M, Kentistou Katherine, Yang Zhiyu, Yu Kai, Vlasschaert Caitlyn, Liu Xiaoxi, Brown Derek W, Hudjashov Georgi, Gorman Bryan, Dennis Joe, Zhou Weiyin, Momozawa Yukihide, Pyarajan Saiju, Tuzov Vlad, Pajuste Fanny-Dhelia, Aavikko Mervi, Sipilä Timo P, Ghazal Awaisa, Huang Wen-Yi, Freedman Neal, Song Lei, Gardner Eugene J, , , , Sankaran Vijay G, Palotie Aarno, Ollila Hanna M, Tukiainen Taru, Chanock Stephen J, Mägi Reedik, Natarajan Pradeep, Daly Mark J, Bick Alexander, McCarroll Steven A, Terao Chikashi, Loh Po-Ru, Ganna Andrea, Perry John R B, Machiela Mitchell |
| Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity.
Cell genomics 2023 2 2 (12): 100212. Tsuo Kristin, Zhou Wei, Wang Ying, Kanai Masahiro, Namba Shinichi, Gupta Rahul, Majara Lerato, Nkambule Lethukuthula L, Morisaki Takayuki, Okada Yukinori, Neale Benjamin M, , Daly Mark J, Martin Alicia |
| Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics.
Cell genomics 2023 2 2 (10): 100181. Partanen Juulia J, Häppölä Paavo, Zhou Wei, Lehisto Arto A, Ainola Mari, Sutinen Eva, Allen Richard J, Stockwell Amy D, Leavy Olivia C, Oldham Justin M, Guillen-Guio Beatriz, Cox Nancy J, Hirbo Jibril B, Schwartz David A, Fingerlin Tasha E, Flores Carlos, Noth Imre, Yaspan Brian L, Jenkins R Gisli, Wain Louise V, Ripatti Samuli, Pirinen Matti, , , Laitinen Tarja, Kaarteenaho Riitta, Myllärniemi Marjukka, Daly Mark J, Koskela Jukka |
| Genetic association studies using disease liabilities from deep neural networks. medRxiv : the preprint server for health sciences 2023 1 . Yang Lu, Sadler Marie C, Altman Russ |
| Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.
Nature communications 2023 1 14 (1): 157. Rämö Joel T, Kiiskinen Tuomo, Seist Richard, Krebs Kristi, Kanai Masahiro, Karjalainen Juha, Kurki Mitja, Hämäläinen Eija, Häppölä Paavo, Havulinna Aki S, Hautakangas Heidi, , Mägi Reedik, Palta Priit, Esko Tõnu, Metspalu Andres, Pirinen Matti, Karczewski Konrad J, Ripatti Samuli, Milani Lili, Stankovic Konstantina M, Mäkitie Antti, Daly Mark J, Palotie Aar |
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- Page last updated:Sep 18, 2023
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