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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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  1. Timofey Prodanov & Vikas Bansal, 2022. "Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
  2. Alexandra Barry & Michelle T. McNulty & Xiaoyuan Jia & Yask Gupta & Hanna Debiec & Yang Luo & China Nagano & Tomoko Horinouchi & Seulgi Jung & Manuela Colucci & Dina F. Ahram & Adele Mitrotti & Aditi , 2023. "Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
  3. Anahita Fathi Kazerooni & Adam Kraya & Komal S. Rathi & Meen Chul Kim & Arastoo Vossough & Nastaran Khalili & Ariana M. Familiar & Deep Gandhi & Neda Khalili & Varun Kesherwani & Debanjan Haldar & Han, 2025. "Multiparametric MRI along with machine learning predicts prognosis and treatment response in pediatric low-grade glioma," Nature Communications, Nature, vol. 16(1), pages 1-16, December.
  4. Oscar Florez-Vargas & Michelle Ho & Maxwell H. Hogshead & Brenen W. Papenberg & Chia-Han Lee & Kaitlin Forsythe & Kristine Jones & Wen Luo & Kedest Teshome & Cornelis Blauwendraat & Kimberly J. Billin, 2025. "Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential," Nature Communications, Nature, vol. 16(1), pages 1-20, December.
  5. Jennifer L. Halford & Valerie N. Morrill & Seung Hoan Choi & Sean J. Jurgens & Giorgio Melloni & Nicholas A. Marston & Lu-Chen Weng & Victor Nauffal & Amelia W. Hall & Sophia Gunn & Christina A. Austi, 2022. "Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
  6. Sook Wah Yee & Luis Ferrández-Peral & Pol Alentorn-Moron & Claudia Fontsere & Merve Ceylan & Megan L. Koleske & Niklas Handin & Virginia M. Artegoitia & Giovanni Lara & Huan-Chieh Chien & Xujia Zhou &, 2024. "Illuminating the function of the orphan transporter, SLC22A10, in humans and other primates," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
  7. Xudong Zou & Zhaozhao Zhao & Yu Chen & Kewei Xiong & Zeyang Wang & Shuxin Chen & Hui Chen & Gong-Hong Wei & Shuhua Xu & Wei Li & Ting Ni & Lei Li, 2025. "Impact of rare non-coding variants on human diseases through alternative polyadenylation outliers," Nature Communications, Nature, vol. 16(1), pages 1-17, December.
  8. Parsa Akbari & Olukayode A. Sosina & Jonas Bovijn & Karl Landheer & Jonas B. Nielsen & Minhee Kim & Senem Aykul & Tanima De & Mary E. Haas & George Hindy & Nan Lin & Ian R. Dinsmore & Jonathan Z. Luo , 2022. "Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
  9. Sean A. Misek & Aaron Fultineer & Jeremie Kalfon & Javad Noorbakhsh & Isabella Boyle & Priyanka Roy & Joshua Dempster & Lia Petronio & Katherine Huang & Alham Saadat & Thomas Green & Adam Brown & John, 2024. "Germline variation contributes to false negatives in CRISPR-based experiments with varying burden across ancestries," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
  10. Ghislain Rocheleau & Shoa L. Clarke & Gaëlle Auguste & Natalie R. Hasbani & Alanna C. Morrison & Adam S. Heath & Lawrence F. Bielak & Kruthika R. Iyer & Erica P. Young & Nathan O. Stitziel & Goo Jun &, 2024. "Rare variant contribution to the heritability of coronary artery disease," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
  11. Quan Sun & Bryce T. Rowland & Jiawen Chen & Anna V. Mikhaylova & Christy Avery & Ulrike Peters & Jessica Lundin & Tara Matise & Steve Buyske & Ran Tao & Rasika A. Mathias & Alexander P. Reiner & Paul , 2024. "Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
  12. Matthew T. Patrick & Qinmengge Li & Rachael Wasikowski & Nehal Mehta & Johann E. Gudjonsson & James T. Elder & Xiang Zhou & Lam C. Tsoi, 2022. "Shared genetic risk factors and causal association between psoriasis and coronary artery disease," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
  13. Carlos H. Trasviña-Arenas & Upeksha C. Dissanayake & Nikole Tamayo & Mohammad Hashemian & Wen-Jen Lin & Merve Demir & Nallely Hoyos-Gonzalez & Andrew J. Fisher & G. Andrés Cisneros & Martin P. Horvath, 2025. "Structure of human MUTYH and functional profiling of cancer-associated variants reveal an allosteric network between its [4Fe-4S] cluster cofactor and active site required for DNA repair," Nature Communications, Nature, vol. 16(1), pages 1-16, December.
  14. Hannah Poisner & Annika Faucon & Nancy Cox & Alexander G. Bick, 2024. "Genetic determinants and phenotypic consequences of blood T-cell proportions in 207,000 diverse individuals," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
  15. Xinruo Zhang & Jennifer A. Brody & Mariaelisa Graff & Heather M. Highland & Nathalie Chami & Hanfei Xu & Zhe Wang & Kendra R. Ferrier & Geetha Chittoor & Navya Shilpa Josyula & Mariah Meyer & Shreyash, 2025. "Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele," Nature Communications, Nature, vol. 16(1), pages 1-15, December.
  16. Kynon J. M. Benjamin & Ria Arora & Arthur S. Feltrin & Geo Pertea & Hunter H. Giles & Joshua M. Stolz & Laura D’Ignazio & Leonardo Collado-Torres & Joo Heon Shin & William S. Ulrich & Thomas M. Hyde &, 2024. "Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
  17. Jake Lin & Elaheh Moradi & Karoliina Salenius & Suvi Lehtipuro & Tomi Häkkinen & Jutta E. Laiho & Sami Oikarinen & Sofia Randelin & Hemang M. Parikh & Jeffrey P. Krischer & Jorma Toppari & Åke Lernmar, 2023. "Distinct transcriptomic profiles in children prior to the appearance of type 1 diabetes-linked islet autoantibodies and following enterovirus infection," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
  18. Mateus H. Gouveia & Amy R. Bentley & Thiago P. Leal & Eduardo Tarazona-Santos & Carlos D. Bustamante & Adebowale A. Adeyemo & Charles N. Rotimi & Daniel Shriner, 2023. "Unappreciated subcontinental admixture in Europeans and European Americans and implications for genetic epidemiology studies," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
  19. Benjamin M. Jacobs & Daniel Stow & Sam Hodgson & Julia Zöllner & Miriam Samuel & Stavroula Kanoni & Saeed Bidi & Klaudia Walter & Claudia Langenberg & Ruth Dobson & Sarah Finer & Caroline Morton & Mon, 2024. "Genetic architecture of routinely acquired blood tests in a British South Asian cohort," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
  20. Nuzulul Kurniansyah & Matthew O. Goodman & Alyna T. Khan & Jiongming Wang & Elena Feofanova & Joshua C. Bis & Kerri L. Wiggins & Jennifer E. Huffman & Tanika Kelly & Tali Elfassy & Xiuqing Guo & Walte, 2023. "Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
  21. Ozvan Bocher & Cristen J. Willer & Eleftheria Zeggini, 2023. "Unravelling the genetic architecture of human complex traits through whole genome sequencing," Nature Communications, Nature, vol. 14(1), pages 1-4, December.
  22. Pol Solé-Navais & Julius Juodakis & Karin Ytterberg & Xiaoping Wu & Jonathan P. Bradfield & Marc Vaudel & Abigail L. LaBella & Øyvind Helgeland & Christopher Flatley & Frank Geller & Moshe Finel & Men, 2024. "Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
  23. Arthur S. Lee & Lauren J. Ayers & Michael Kosicki & Wai-Man Chan & Lydia N. Fozo & Brandon M. Pratt & Thomas E. Collins & Boxun Zhao & Matthew F. Rose & Alba Sanchis-Juan & Jack M. Fu & Isaac Wong & X, 2024. "A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders," Nature Communications, Nature, vol. 15(1), pages 1-26, December.
  24. Gökhan Cildir & Umran Aba & Damla Pehlivan & Denis Tvorogov & Nicholas I. Warnock & Canberk Ipsir & Elif Arik & Chung Hoow Kok & Ceren Bozkurt & Sidem Tekeoglu & Gaye Inal & Mahmut Cesur & Ercan Kucuk, 2024. "Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
  25. Christian M. Boßelmann & Costin Leu & Tobias Brünger & Lucas Hoffmann & Sara Baldassari & Mathilde Chipaux & Roland Coras & Katja Kobow & Hajo Hamer & Daniel Delev & Karl Rössler & Christian G. Bien &, 2024. "Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
  26. Manon Baudic & Hiroshige Murata & Fernanda M. Bosada & Uirá Souto Melo & Takanori Aizawa & Pierre Lindenbaum & Lieve E. Maarel & Amaury Guedon & Estelle Baron & Enora Fremy & Adrien Foucal & Taisuke I, 2024. "TAD boundary deletion causes PITX2-related cardiac electrical and structural defects," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
  27. Mathias Seviiri & Matthew H. Law & Jue-Sheng Ong & Puya Gharahkhani & Pierre Fontanillas & Catherine M. Olsen & David C. Whiteman & Stuart MacGregor, 2022. "A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
  28. Pei-Kuan Cong & Wei-Yang Bai & Jin-Chen Li & Meng-Yuan Yang & Saber Khederzadeh & Si-Rui Gai & Nan Li & Yu-Heng Liu & Shi-Hui Yu & Wei-Wei Zhao & Jun-Quan Liu & Yi Sun & Xiao-Wei Zhu & Pian-Pian Zhao , 2022. "Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
  29. Meritxell Oliva & Mrinal K. Sarkar & Michael E. March & Amir Hossein Saeidian & Frank D. Mentch & Chen-Lin Hsieh & Fanying Tang & Ranjitha Uppala & Matthew T. Patrick & Qinmengge Li & Rachael Bogle & , 2025. "Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis," Nature Communications, Nature, vol. 16(1), pages 1-17, December.
  30. Yash Pershad & Taralynn Mack & Hannah Poisner & Yasminka A. Jakubek & Adrienne M. Stilp & Braxton D. Mitchell & Joshua P. Lewis & Eric Boerwinkle & Ruth J. F. Loos & Nathalie Chami & Zhe Wang & Kathle, 2024. "Determinants of mosaic chromosomal alteration fitness," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
  31. Amanda N. Brice & Lauren A. Vanderlinden & Katie M. Marker & David Mayer & Meng Lin & Nicholas Rafaels & Jonathan A. Shortt & Alex Romero & Jan T. Lowery & Christopher R. Gignoux & Randi K. Johnson, 2023. "COVID-19 Mortality in the Colorado Center for Personalized Medicine Biobank," IJERPH, MDPI, vol. 20(3), pages 1-12, January.
  32. Zihuai He & Linxi Liu & Michael E. Belloy & Yann Guen & Aaron Sossin & Xiaoxia Liu & Xinran Qi & Shiyang Ma & Prashnna K. Gyawali & Tony Wyss-Coray & Hua Tang & Chiara Sabatti & Emmanuel Candès & Mich, 2022. "GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
  33. Tiffany Eulalio & Min Woo Sun & Olivier Gevaert & Michael D. Greicius & Thomas J. Montine & Daniel Nachun & Stephen B. Montgomery, 2025. "regionalpcs improve discovery of DNA methylation associations with complex traits," Nature Communications, Nature, vol. 16(1), pages 1-19, December.
  34. Guillaume Butler-Laporte & Gundula Povysil & Jack A Kosmicki & Elizabeth T Cirulli & Theodore Drivas & Simone Furini & Chadi Saad & Axel Schmidt & Pawel Olszewski & Urszula Korotko & Mathieu Quinodoz , 2022. "Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative," PLOS Genetics, Public Library of Science, vol. 18(11), pages 1-26, November.
  35. Fernando S. Goes & Leonardo Collado-Torres & Peter P. Zandi & Louise Huuki-Myers & Ran Tao & Andrew E. Jaffe & Geo Pertea & Joo Heon Shin & Daniel R. Weinberger & Joel E. Kleinman & Thomas M. Hyde, 2025. "Large-scale transcriptomic analyses of major depressive disorder reveal convergent dysregulation of synaptic pathways in excitatory neurons," Nature Communications, Nature, vol. 16(1), pages 1-15, December.
  36. Kurt Farrell & Jack Humphrey & Timothy Chang & Yi Zhao & Yuk Yee Leung & Pavel P. Kuksa & Vishakha Patil & Wan-Ping Lee & Amanda B. Kuzma & Otto Valladares & Laura B. Cantwell & Hui Wang & Ashvin Ravi, 2024. "Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
  37. Injeong Shim & Hiroyuki Kuwahara & NingNing Chen & Mais O. Hashem & Lama AlAbdi & Mohamed Abouelhoda & Hong-Hee Won & Pradeep Natarajan & Patrick T. Ellinor & Amit V. Khera & Xin Gao & Fowzan S. Alkur, 2023. "Clinical utility of polygenic scores for cardiometabolic disease in Arabs," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
  38. Elena V. Feofanova & Michael R. Brown & Taryn Alkis & Astrid M. Manuel & Xihao Li & Usman A. Tahir & Zilin Li & Kevin M. Mendez & Rachel S. Kelly & Qibin Qi & Han Chen & Martin G. Larson & Rozenn N. L, 2023. "Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
  39. Mohammad Erfan Mowlaei & Chong Li & Oveis Jamialahmadi & Raquel Dias & Junjie Chen & Benyamin Jamialahmadi & Timothy Richard Rebbeck & Vincenzo Carnevale & Sudhir Kumar & Xinghua Shi, 2025. "STICI: Split-Transformer with integrated convolutions for genotype imputation," Nature Communications, Nature, vol. 16(1), pages 1-14, December.
  40. Gareth Hawkes & Robin N. Beaumont & Zilin Li & Ravi Mandla & Xihao Li & Christine M. Albert & Donna K. Arnett & Allison E. Ashley-Koch & Aneel A. Ashrani & Kathleen C. Barnes & Eric Boerwinkle & Jenni, 2024. "Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
  41. Marsha M. Wheeler & Adrienne M. Stilp & Shuquan Rao & Bjarni V. Halldórsson & Doruk Beyter & Jia Wen & Anna V. Mihkaylova & Caitlin P. McHugh & John Lane & Min-Zhi Jiang & Laura M. Raffield & Goo Jun , 2022. "Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
  42. Bárbara Sousa da Mota & Simone Rubinacci & Diana Ivette Cruz Dávalos & Carlos Eduardo G. Amorim & Martin Sikora & Niels N. Johannsen & Marzena H. Szmyt & Piotr Włodarczak & Anita Szczepanek & Marcin M, 2023. "Imputation of ancient human genomes," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
  43. Hongru Li & Jingyi Zhao & Jinglan Dai & Dongfang You & Yang Zhao & David C. Christiani & Feng Chen & Sipeng Shen, 2025. "Multi-ancestry sequencing-based genome-wide association study of C-reactive protein in 513,273 genomes," Nature Communications, Nature, vol. 16(1), pages 1-11, December.
  44. Ke Mao & Christelle Borel & Muhammad Ansar & Angad Jolly & Periklis Makrythanasis & Christine Froehlich & Justyna Iwaszkiewicz & Bingqing Wang & Xiaopeng Xu & Qiang Li & Xavier Blanc & Hao Zhu & Qi Ch, 2023. "FOXI3 pathogenic variants cause one form of craniofacial microsomia," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
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