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The mutational constraint spectrum quantified from variation in 141,456 humans

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  1. Oriol Pich & Iker Reyes-Salazar & Abel Gonzalez-Perez & Nuria Lopez-Bigas, 2022. "Discovering the drivers of clonal hematopoiesis," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
  2. Timothy D. Arthur & Jennifer P. Nguyen & Agnieszka D’Antonio-Chronowska & Hiroko Matsui & Nayara S. Silva & Isaac N. Joshua & André D. Luchessi & William W. Young Greenwald & Matteo D’Antonio & Martin, 2024. "Complex regulatory networks influence pluripotent cell state transitions in human iPSCs," Nature Communications, Nature, vol. 15(1), pages 1-19, December.
  3. Asmundur Oddsson & Patrick Sulem & Gardar Sveinbjornsson & Gudny A. Arnadottir & Valgerdur Steinthorsdottir & Gisli H. Halldorsson & Bjarni A. Atlason & Gudjon R. Oskarsson & Hannes Helgason & Henriet, 2023. "Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
  4. Peter H. Dixon & Adam P. Levine & Inês Cebola & Melanie M. Y. Chan & Aliya S. Amin & Anshul Aich & Monika Mozere & Hannah Maude & Alice L. Mitchell & Jun Zhang & Jenny Chambers & Argyro Syngelaki & Je, 2022. "GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
  5. Vincent Michaud & Eulalie Lasseaux & David J. Green & Dave T. Gerrard & Claudio Plaisant & Tomas Fitzgerald & Ewan Birney & Benoît Arveiler & Graeme C. Black & Panagiotis I. Sergouniotis, 2022. "The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism," Nature Communications, Nature, vol. 13(1), pages 1-8, December.
  6. Laurel A. Keefer & James R. White & Derrick E. Wood & Kelly M. R. Gerding & Kenneth C. Valkenburg & David Riley & Christopher Gault & Eniko Papp & Christine M. Vollmer & Amy Greer & James Hernandez & , 2022. "Automated next-generation profiling of genomic alterations in human cancers," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
  7. Hung-Lin Chen & Hsiu-Yin Chiang & David Ray Chang & Chi-Fung Cheng & Charles C. N. Wang & Tzu-Pin Lu & Chien-Yueh Lee & Amrita Chattopadhyay & Yu-Ting Lin & Che-Chen Lin & Pei-Tzu Yu & Chien-Fong Huan, 2024. "Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
  8. Parithi Balachandran & Isha A. Walawalkar & Jacob I. Flores & Jacob N. Dayton & Peter A. Audano & Christine R. Beck, 2022. "Transposable element-mediated rearrangements are prevalent in human genomes," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
  9. Johanna M. Kohlmayr & Gernot F. Grabner & Anna Nusser & Anna Höll & Verina Manojlović & Bettina Halwachs & Sarah Masser & Evelyne Jany-Luig & Hanna Engelke & Robert Zimmermann & Ulrich Stelzl, 2024. "Mutational scanning pinpoints distinct binding sites of key ATGL regulators in lipolysis," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
  10. Natalie DeForest & Yuqi Wang & Zhiyi Zhu & Jacqueline S. Dron & Ryan Koesterer & Pradeep Natarajan & Jason Flannick & Tiffany Amariuta & Gina M. Peloso & Amit R. Majithia, 2024. "Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
  11. Igor Dolgalev & Hua Zhou & Nina Murrell & Hortense Le & Theodore Sakellaropoulos & Nicolas Coudray & Kelsey Zhu & Varshini Vasudevaraja & Anna Yeaton & Chandra Goparaju & Yonghua Li & Imran Sulaiman &, 2023. "Inflammation in the tumor-adjacent lung as a predictor of clinical outcome in lung adenocarcinoma," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
  12. Magdalena Zimoń & Yunfeng Huang & Anthi Trasta & Aliaksandr Halavatyi & Jimmy Z. Liu & Chia-Yen Chen & Peter Blattmann & Bernd Klaus & Christopher D. Whelan & David Sexton & Sally John & Wolfgang Hube, 2021. "Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake," Nature Communications, Nature, vol. 12(1), pages 1-16, December.
  13. Nathan L. Absalom & Vivian W. Y. Liao & Katrine M. H. Johannesen & Elena Gardella & Julia Jacobs & Gaetan Lesca & Zeynep Gokce-Samar & Alexis Arzimanoglou & Shimriet Zeidler & Pasquale Striano & Pierr, 2022. "Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
  14. Pisanu Buphamalai & Tomislav Kokotovic & Vanja Nagy & Jörg Menche, 2021. "Network analysis reveals rare disease signatures across multiple levels of biological organization," Nature Communications, Nature, vol. 12(1), pages 1-15, December.
  15. Jurica Levatić & Marina Salvadores & Francisco Fuster-Tormo & Fran Supek, 2022. "Mutational signatures are markers of drug sensitivity of cancer cells," Nature Communications, Nature, vol. 13(1), pages 1-19, December.
  16. Celina Tretter & Niklas Andrade Krätzig & Matteo Pecoraro & Sebastian Lange & Philipp Seifert & Clara Frankenberg & Johannes Untch & Gabriela Zuleger & Mathias Wilhelm & Daniel P. Zolg & Florian S. Dr, 2023. "Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification," Nature Communications, Nature, vol. 14(1), pages 1-22, December.
  17. 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.
  18. Yangci Liu & Haoming Zhai & Helen Alemayehu & Jérôme Boulanger & Lee J. Hopkins & Alicia C. Borgeaud & Christina Heroven & Jonathan D. Howe & Kendra E. Leigh & Clare E. Bryant & Yorgo Modis, 2023. "Cryo-electron tomography of NLRP3-activated ASC complexes reveals organelle co-localization," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
  19. Marcin Kierczak & Nima Rafati & Julia Höglund & Hadrien Gourlé & Valeria Lo Faro & Daniel Schmitz & Weronica E. Ek & Ulf Gyllensten & Stefan Enroth & Diana Ekman & Björn Nystedt & Torgny Karlsson & Ås, 2022. "Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
  20. Joel T. Rämö & Tuomo Kiiskinen & Richard Seist & Kristi Krebs & Masahiro Kanai & Juha Karjalainen & Mitja Kurki & Eija Hämäläinen & Paavo Häppölä & Aki S. Havulinna & Heidi Hautakangas & Reedik Mägi &, 2023. "Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
  21. 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.
  22. Juan Lorenzo Rodriguez-Flores & Shareef Khalid & Neelroop Parikshak & Asif Rasheed & Bin Ye & Manav Kapoor & Joshua Backman & Farshid Sepehrband & Silvio Alessandro Di Gioia & Sahar Gelfman & Tanima D, 2024. "NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
  23. Yiqin Wang & Xiaoxian Guo & Xiumei Hong & Guoying Wang & Colleen Pearson & Barry Zuckerman & Andrew G. Clark & Kimberly O. O’Brien & Xiaobin Wang & Zhenglong Gu, 2022. "Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
  24. Gerard Llimos & Vincent Gardeux & Ute Koch & Judith F. Kribelbauer & Antonina Hafner & Daniel Alpern & Joern Pezoldt & Maria Litovchenko & Julie Russeil & Riccardo Dainese & Riccardo Moia & Abdurraouf, 2022. "A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation," Nature Communications, Nature, vol. 13(1), pages 1-21, December.
  25. Aimee M. Deaton & Aditi Dubey & Lucas D. Ward & Peter Dornbos & Jason Flannick & Elaine Yee & Simina Ticau & Leila Noetzli & Margaret M. Parker & Rachel A. Hoffing & Carissa Willis & Mollie E. Plekan , 2022. "Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
  26. 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.
  27. Rebecca J. Deyell & Yaoqing Shen & Emma Titmuss & Katherine Dixon & Laura M. Williamson & Erin Pleasance & Jessica M. T. Nelson & Sanna Abbasi & Martin Krzywinski & Linlea Armstrong & Melika Bonakdar , 2024. "Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
  28. Paul W. Chrystal & Nils J. Lambacher & Lance P. Doucette & James Bellingham & Elena R. Schiff & Nicole C. L. Noel & Chunmei Li & Sofia Tsiropoulou & Geoffrey A. Casey & Yi Zhai & Nathan J. Nadolski & , 2022. "The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision," Nature Communications, Nature, vol. 13(1), pages 1-22, December.
  29. Laura M. Mueller & Abigail Isaacson & Heather Wilson & Anna Salowka & Isabel Tay & Maolian Gong & Nancy Samir Elbarbary & Klemens Raile & Francesca M. Spagnoli, 2024. "Heterozygous missense variant in GLI2 impairs human endocrine pancreas development," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
  30. 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.
  31. Caroline Gubser Keller & Youngah Shin & Alex Mas Monteys & Nicole Renaud & Martin Beibel & Natalia Teider & Thomas Peters & Thomas Faller & Sophie St-Cyr & Judith Knehr & Guglielmo Roma & Alejandro Re, 2022. "An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
  32. Carolina Gracia-Diaz & Yijing Zhou & Qian Yang & Reza Maroofian & Paula Espana-Bonilla & Chul-Hwan Lee & Shuo Zhang & Natàlia Padilla & Raquel Fueyo & Elisa A. Waxman & Sunyimeng Lei & Garrett Otrimsk, 2023. "Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
  33. Maisa Pinheiro & Nicolas Wentzensen & Michael Dean & Meredith Yeager & Zigui Chen & Amulya Shastry & Joseph F. Boland & Sara Bass & Laurie Burdett & Thomas Lorey & Sambit Mishra & Philip E. Castle & M, 2024. "Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
  34. Keren Papier & Joshua R. Atkins & Tammy Y. N. Tong & Kezia Gaitskell & Trishna Desai & Chibuzor F. Ogamba & Mahboubeh Parsaeian & Gillian K. Reeves & Ian G. Mills & Tim J. Key & Karl Smith-Byrne & Rut, 2024. "Identifying proteomic risk factors for cancer using prospective and exome analyses of 1463 circulating proteins and risk of 19 cancers in the UK Biobank," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
  35. 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.
  36. David R. Blair & Thomas J. Hoffmann & Joseph T. Shieh, 2022. "Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
  37. Christos Miliotis & Yuling Ma & Xanthi-Lida Katopodi & Dimitra Karagkouni & Eleni Kanata & Kaia Mattioli & Nikolas Kalavros & Yered H. Pita-Juárez & Felipe Batalini & Varune R. Ramnarine & Shivani Nan, 2024. "Determinants of gastric cancer immune escape identified from non-coding immune-landscape quantitative trait loci," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
  38. M. Kyle Cromer & Valentin V. Barsan & Erich Jaeger & Mengchi Wang & Jessica P. Hampton & Feng Chen & Drew Kennedy & Jenny Xiao & Irina Khrebtukova & Ana Granat & Tiffany Truong & Matthew H. Porteus, 2022. "Ultra-deep sequencing validates safety of CRISPR/Cas9 genome editing in human hematopoietic stem and progenitor cells," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
  39. 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.
  40. Ophélie Gourgas & Gabrielle Lemire & Alison J. Eaton & Sultanah Alshahrani & Angela L. Duker & Jingjing Li & Ricki S. Carroll & Stuart Mackenzie & Sarah M. Nikkel & Michael B. Bober & Kym M. Boycott &, 2023. "Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia," Nature Communications, Nature, vol. 14(1), pages 1-20, December.
  41. Alicia-Marie Conway & Simon P. Pearce & Alexandra Clipson & Steven M. Hill & Francesca Chemi & Dan Slane-Tan & Saba Ferdous & A. S. Md Mukarram Hossain & Katarzyna Kamieniecka & Daniel J. White & Clai, 2024. "A cfDNA methylation-based tissue-of-origin classifier for cancers of unknown primary," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
  42. Manbir Sandhu & Aaron Cho & Ning Ma & Elizaveta Mukhaleva & Yoon Namkung & Sangbae Lee & Soumadwip Ghosh & John H. Lee & David E. Gloriam & Stéphane A. Laporte & M. Madan Babu & Nagarajan Vaidehi, 2022. "Dynamic spatiotemporal determinants modulate GPCR:G protein coupling selectivity and promiscuity," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
  43. Matt C. Danzi & Maike F. Dohrn & Sarah Fazal & Danique Beijer & Adriana P. Rebelo & Vivian Cintra & Stephan Züchner, 2023. "Deep structured learning for variant prioritization in Mendelian diseases," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
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  51. Sheng Wang & Belinda Wang & Vanessa Drury & Sam Drake & Nawei Sun & Hasan Alkhairo & Juan Arbelaez & Clif Duhn & Vanessa H. Bal & Kate Langley & Joanna Martin & Pieter J. Hoekstra & Andrea Dietrich & , 2023. "Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
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