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Analysis of protein-coding genetic variation in 60,706 humans

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  1. Salim Megat & Natalia Mora & Jason Sanogo & Olga Roman & Alberto Catanese & Najwa Ouali Alami & Axel Freischmidt & Xhuljana Mingaj & Hortense Calbiac & François Muratet & Sylvie Dirrig-Grosch & Stépha, 2023. "Integrative genetic analysis illuminates ALS heritability and identifies risk genes," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
  2. Sophie A. Riesmeijer & Zoha Kamali & Michael Ng & Dmitriy Drichel & Bram Piersma & Kerstin Becker & Thomas B. Layton & Jagdeep Nanchahal & Michael Nothnagel & Ahmad Vaez & Hans Christian Hennies & Pau, 2024. "A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren’s disease," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
  3. Yuk Yee Leung & Adam C. Naj & Yi-Fan Chou & Otto Valladares & Michael Schmidt & Kara Hamilton-Nelson & Nicholas Wheeler & Honghuang Lin & Prabhakaran Gangadharan & Liming Qu & Kaylyn Clark & Amanda B., 2024. "Human whole-exome genotype data for Alzheimer’s disease," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
  4. Indu Kohaar & Xijun Zhang & Shyh-Han Tan & Darryl Nousome & Kevin Babcock & Lakshmi Ravindranath & Gauthaman Sukumar & Elisa Mcgrath-Martinez & John Rosenberger & Camille Alba & Amina Ali & Denise You, 2022. "Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes," Nature Communications, Nature, vol. 13(1), pages 1-9, December.
  5. Ralda Nehme & Olli Pietiläinen & Mykyta Artomov & Matthew Tegtmeyer & Vera Valakh & Leevi Lehtonen & Christina Bell & Tarjinder Singh & Aditi Trehan & John Sherwood & Danielle Manning & Emily Peirent , 2022. "The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia," Nature Communications, Nature, vol. 13(1), pages 1-21, December.
  6. Gudny A. Arnadottir & Asmundur Oddsson & Brynjar O. Jensson & Svanborg Gisladottir & Mariella T. Simon & Asgeir O. Arnthorsson & Hildigunnur Katrinardottir & Run Fridriksdottir & Erna V. Ivarsdottir &, 2022. "Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene," Nature Communications, Nature, vol. 13(1), pages 1-9, December.
  7. Kellan P. Weston & Xiaoyi Gao & Jinghan Zhao & Kwang-Soo Kim & Susan E. Maloney & Jill Gotoff & Sumit Parikh & Yen-Chen Leu & Kuen-Phon Wu & Marwan Shinawi & Joshua P. Steimel & Joseph S. Harrison & J, 2021. "Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis," Nature Communications, Nature, vol. 12(1), pages 1-15, December.
  8. Bian Li & Dan M. Roden & John A. Capra, 2022. "The 3D mutational constraint on amino acid sites in the human proteome," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
  9. Ryan N. Ptashkin & Mark D. Ewalt & Gowtham Jayakumaran & Iwona Kiecka & Anita S. Bowman & JinJuan Yao & Jacklyn Casanova & Yun-Te David Lin & Kseniya Petrova-Drus & Abhinita S. Mohanty & Ruben Bacares, 2023. "Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
  10. Jeffrey D. Wall & J. Fah Sathirapongsasuti & Ravi Gupta & Asif Rasheed & Radha Venkatesan & Saurabh Belsare & Ramesh Menon & Sameer Phalke & Anuradha Mittal & John Fang & Deepak Tanneeru & Manjari Des, 2023. "South Asian medical cohorts reveal strong founder effects and high rates of homozygosity," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
  11. Ryo Yamamoto & Ryan Chung & Juan Manuel Vazquez & Huanjie Sheng & Philippa L. Steinberg & Nilah M. Ioannidis & Peter H. Sudmant, 2022. "Tissue-specific impacts of aging and genetics on gene expression patterns in humans," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
  12. Leonardo Sportelli & Daniel P. Eisenberg & Roberta Passiatore & Enrico D’Ambrosio & Linda A. Antonucci & Jasmine S. Bettina & Qiang Chen & Aaron L. Goldman & Michael D. Gregory & Kira Griffiths & Thom, 2024. "Dopamine signaling enriched striatal gene set predicts striatal dopamine synthesis and physiological activity in vivo," Nature Communications, Nature, vol. 15(1), pages 1-19, December.
  13. Sock Hoai Chan & Yasmin Bylstra & Jing Xian Teo & Jyn Ling Kuan & Nicolas Bertin & Mar Gonzalez-Porta & Maxime Hebrard & Roberto Tirado-Magallanes & Joanna Hui Juan Tan & Justin Jeyakani & Zhihui Li &, 2022. "Analysis of clinically relevant variants from ancestrally diverse Asian genomes," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
  14. Viorica Chelban & Henriette Aksnes & Reza Maroofian & Lauren C. LaMonica & Luis Seabra & Anette Siggervåg & Perrine Devic & Hanan E. Shamseldin & Jana Vandrovcova & David Murphy & Anne-Claire Richard , 2024. "Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
  15. Charley Xia & Sarah J. Pickett & David C. M. Liewald & Alexander Weiss & Gavin Hudson & W. David Hill, 2023. "The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
  16. Ada J. S. Chan & Worrawat Engchuan & Miriam S. Reuter & Zhuozhi Wang & Bhooma Thiruvahindrapuram & Brett Trost & Thomas Nalpathamkalam & Carol Negrijn & Sylvia Lamoureux & Giovanna Pellecchia & Rohan , 2022. "Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
  17. Kian Hong Kock & Patrick K. Kimes & Stephen S. Gisselbrecht & Sachi Inukai & Sabrina K. Phanor & James T. Anderson & Gayatri Ramakrishnan & Colin H. Lipper & Dongyuan Song & Jesse V. Kurland & Julia M, 2024. "DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues," Nature Communications, Nature, vol. 15(1), pages 1-19, December.
  18. Shifeng Xue & Thanh Thao Nguyen Ly & Raunak S. Vijayakar & Jingyi Chen & Joel Ng & Ajay S. Mathuru & Frederique Magdinier & Bruno Reversade, 2022. "HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
  19. Green, Sara & Carusi, Annamaria & Hoeyer, Klaus, 2022. "Plastic diagnostics: The remaking of disease and evidence in personalized medicine," Social Science & Medicine, Elsevier, vol. 304(C).
  20. Farshad Farshidfar & Kahn Rhrissorrakrai & Chaya Levovitz & Cong Peng & James Knight & Antonella Bacchiocchi & Juan Su & Mingzhu Yin & Mario Sznol & Stephan Ariyan & James Clune & Kelly Olino & Laxmi , 2022. "Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
  21. Maria Stahl Madsen & Marjoleine F. Broekema & Martin Rønn Madsen & Arjen Koppen & Anouska Borgman & Cathrin Gräwe & Elisabeth G. K. Thomsen & Denise Westland & Mariette E. G. Kranendonk & Marian Groot, 2022. "PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation," Nature Communications, Nature, vol. 13(1), pages 1-19, December.
  22. Noah Dukler & Mehreen R. Mughal & Ritika Ramani & Yi-Fei Huang & Adam Siepel, 2022. "Extreme purifying selection against point mutations in the human genome," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
  23. Naser Ansari-Pour & Yonglan Zheng & Toshio F. Yoshimatsu & Ayodele Sanni & Mustapha Ajani & Jean-Baptiste Reynier & Avraam Tapinos & Jason J. Pitt & Stefan Dentro & Anna Woodard & Padma Sheila Rajagop, 2021. "Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes," Nature Communications, Nature, vol. 12(1), pages 1-15, December.
  24. Suganth Suppiah & Sheila Mansouri & Yasin Mamatjan & Jeffrey C. Liu & Minu M. Bhunia & Vikas Patil & Prisni Rath & Bharati Mehani & Pardeep Heir & Severa Bunda & German L. Velez-Reyes & Olivia Singh &, 2023. "Multiplatform molecular profiling uncovers two subgroups of malignant peripheral nerve sheath tumors with distinct therapeutic vulnerabilities," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
  25. Ricky Lali & Michael Chong & Arghavan Omidi & Pedrum Mohammadi-Shemirani & Ann Le & Edward Cui & Guillaume Paré, 2021. "Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories," Nature Communications, Nature, vol. 12(1), pages 1-15, December.
  26. Mark W. Youngblood & Zeynep Erson-Omay & Chang Li & Hinda Najem & Süleyman Coșkun & Evgeniya Tyrtova & Julio D. Montejo & Danielle F. Miyagishima & Tanyeri Barak & Sayoko Nishimura & Akdes Serin Harma, 2023. "Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
  27. Anna Worthmann & Julius Ridder & Sharlaine Y. L. Piel & Ioannis Evangelakos & Melina Musfeldt & Hannah Voß & Marie O’Farrell & Alexander W. Fischer & Sangeeta Adak & Monica Sundd & Hasibullah Siffeti , 2024. "Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
  28. Trendelina Rrustemi & Katrina Meyer & Yvette Roske & Bora Uyar & Altuna Akalin & Koshi Imami & Yasushi Ishihama & Oliver Daumke & Matthias Selbach, 2024. "Pathogenic mutations of human phosphorylation sites affect protein–protein interactions," Nature Communications, Nature, vol. 15(1), pages 1-19, December.
  29. Feng Jiang & Shou-Ye Hu & Wen Tian & Nai-Ning Wang & Ning Yang & Shan-Shan Dong & Hui-Miao Song & Da-Jin Zhang & Hui-Wu Gao & Chen Wang & Hao Wu & Chang-Yi He & Dong-Li Zhu & Xiao-Feng Chen & Yan Guo , 2024. "A landscape of gene expression regulation for synovium in arthritis," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
  30. Yunfeng Huang & Dora Bodnar & Chia-Yen Chen & Gabriela Sanchez-Andrade & Mark Sanderson & Jun Shi & Katherine G. Meilleur & Matthew E. Hurles & Sebastian S. Gerety & Ellen A. Tsai & Heiko Runz, 2023. "Rare genetic variants impact muscle strength," Nature Communications, Nature, vol. 14(1), pages 1-8, December.
  31. Heyang Cui & Yong Zhou & Fang Wang & Caixia Cheng & Weimin Zhang & Ruifang Sun & Ling Zhang & Yanghui Bi & Min Guo & Yan Zhou & Xinhui Wang & Jiaxin Ren & Ruibing Bai & Ning Ding & Chen Cheng & Longlo, 2022. "Characterization of somatic structural variations in 528 Chinese individuals with Esophageal squamous cell carcinoma," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
  32. Marc P. Forrest & Marc Dos Santos & Nicolas H. Piguel & Yi-Zhi Wang & Nicole A. Hawkins & Vikram A. Bagchi & Leonardo E. Dionisio & Sehyoun Yoon & Dina Simkin & Maria Dolores Martin-de-Saavedra & Ruoq, 2023. "Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub," Nature Communications, Nature, vol. 14(1), pages 1-20, December.
  33. Sally J. Adua & Anna Arnal-Estapé & Minghui Zhao & Bowen Qi & Zongzhi Z. Liu & Carolyn Kravitz & Heather Hulme & Nicole Strittmatter & Francesc López-Giráldez & Sampada Chande & Alexandra E. Albert & , 2022. "Brain metastatic outgrowth and osimertinib resistance are potentiated by RhoA in EGFR-mutant lung cancer," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
  34. Tetsuo Shoda & Kenneth M. Kaufman & Ting Wen & Julie M. Caldwell & Garrett A. Osswald & Pathre Purnima & Nives Zimmermann & Margaret H. Collins & Kira Rehn & Heather Foote & Michael D. Eby & Wenying Z, 2021. "Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis," Nature Communications, Nature, vol. 12(1), pages 1-15, December.
  35. Ting Fu & Kofi Amoah & Tracey W. Chan & Jae Hoon Bahn & Jae-Hyung Lee & Sari Terrazas & Rockie Chong & Sriram Kosuri & Xinshu Xiao, 2024. "Massively parallel screen uncovers many rare 3′ UTR variants regulating mRNA abundance of cancer driver genes," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
  36. Scott D. Findlay & Lindsay Romo & Christopher B. Burge, 2024. "Quantifying negative selection in human 3ʹ UTRs uncovers constrained targets of RNA-binding proteins," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
  37. Ruoyu Tian & Tian Ge & Hyeokmoon Kweon & Daniel B. Rocha & Max Lam & Jimmy Z. Liu & Kritika Singh & Daniel F. Levey & Joel Gelernter & Murray B. Stein & Ellen A. Tsai & Hailiang Huang & Christopher F., 2024. "Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
  38. 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.
  39. Iker Núñez-Carpintero & Maria Rigau & Mattia Bosio & Emily O’Connor & Sally Spendiff & Yoshiteru Azuma & Ana Topf & Rachel Thompson & Peter A. C. ’t Hoen & Teodora Chamova & Ivailo Tournev & Velina Gu, 2024. "Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
  40. Rotem Katzir & Noam Rudberg & Keren Yizhak, 2022. "Estimating tumor mutational burden from RNA-sequencing without a matched-normal sample," Nature Communications, Nature, vol. 13(1), pages 1-10, December.
  41. James T. Topham & Erica S. Tsang & Joanna M. Karasinska & Andrew Metcalfe & Hassan Ali & Steve E. Kalloger & Veronika Csizmok & Laura M. Williamson & Emma Titmuss & Karina Nielsen & Gian Luca Negri & , 2022. "Integrative analysis of KRAS wildtype metastatic pancreatic ductal adenocarcinoma reveals mutation and expression-based similarities to cholangiocarcinoma," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
  42. Fabio Alfieri & Giulio Caravagna & Martin H. Schaefer, 2023. "Cancer genomes tolerate deleterious coding mutations through somatic copy number amplifications of wild-type regions," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
  43. Birgit Burkhardt & Ulf Michgehl & Jonas Rohde & Tabea Erdmann & Philipp Berning & Katrin Reutter & Marius Rohde & Arndt Borkhardt & Thomas Burmeister & Sandeep Dave & Alexandar Tzankov & Martin Dugas , 2022. "Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
  44. Choong-kun Lee & Sun Young Rha & Hyo Song Kim & Minkyu Jung & Beodeul Kang & Jingmin Che & Woo Sun Kwon & Sejung Park & Woo Kyun Bae & Dong-Hoe Koo & Su-Jin Shin & Hyunki Kim & Hei-Cheul Jeung & Dae Y, 2022. "A single arm phase Ib/II trial of first-line pembrolizumab, trastuzumab and chemotherapy for advanced HER2-positive gastric cancer," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
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