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

Citations

Cited by:

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. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
21. 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.
22. 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.
23. 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.
24. 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.
25. 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.
26. 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.
27. 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.
28. 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.
29. 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.
30. 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.
31. 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.
32. 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.
33. 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.
34. 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.
35. 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.
36. 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.
37. 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.
38. Tara N. Yankee & Sungryong Oh & Emma Wentworth Winchester & Andrea Wilderman & Kelsey Robinson & Tia Gordon & Jill A. Rosenfeld & Jennifer VanOudenhove & Daryl A. Scott & Elizabeth J. Leslie & Justin , 2023. "Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes," Nature Communications, Nature, vol. 14(1), pages 1-23, December.
39. Pei Zhao & Chao Wang & Shuhong Sun & Xi Wang & William E. Balch, 2024. "Tracing genetic diversity captures the molecular basis of misfolding disease," Nature Communications, Nature, vol. 15(1), pages 1-22, December.
40. Alexendar R. Perez & Laura Sala & Richard K. Perez & Joana A. Vidigal, 2021. "CSC software corrects off-target mediated gRNA depletion in CRISPR-Cas9 essentiality screens," Nature Communications, Nature, vol. 12(1), pages 1-11, December.
41. Stéphanie Bibert & Mathieu Quinodoz & Sylvain Perriot & Fanny S. Krebs & Maxime Jan & Rita C. Malta & Emilie Collinet & Mathieu Canales & Amandine Mathias & Nicole Faignart & Eliane Roulet-Perez & Pas, 2024. "Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
42. 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.
43. Ananyo Choudhury & Jean-Tristan Brandenburg & Tinashe Chikowore & Dhriti Sengupta & Palwende Romuald Boua & Nigel J. Crowther & Godfred Agongo & Gershim Asiki & F. Xavier Gómez-Olivé & Isaac Kisiangan, 2022. "Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
44. 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.
45. Sandra P. D’Angelo & Allison L. Richards & Anthony P. Conley & Hyung Jun Woo & Mark A. Dickson & Mrinal Gounder & Ciara Kelly & Mary Louise Keohan & Sujana Movva & Katherine Thornton & Evan Rosenbaum , 2022. "Pilot study of bempegaldesleukin in combination with nivolumab in patients with metastatic sarcoma," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
46. 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.
47. 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.
48. Yuichi Shiraishi & Ai Okada & Kenichi Chiba & Asuka Kawachi & Ikuko Omori & Raúl Nicolás Mateos & Naoko Iida & Hirofumi Yamauchi & Kenjiro Kosaki & Akihide Yoshimi, 2022. "Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
49. Gaëlle Odelin & Adèle Faucherre & Damien Marchese & Amélie Pinard & Hager Jaouadi & Solena Scouarnec & Raphaël Chiarelli & Younes Achouri & Emilie Faure & Marine Herbane & Alexis Théron & Jean-Françoi, 2023. "Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
50. Basavraj Khanppnavar & Julian Maier & Freja Herborg & Ralph Gradisch & Erika Lazzarin & Dino Luethi & Jae-Won Yang & Chao Qi & Marion Holy & Kathrin Jäntsch & Oliver Kudlacek & Klaus Schicker & Thomas, 2022. "Structural basis of organic cation transporter-3 inhibition," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
51. Matthew Tegtmeyer & Jatin Arora & Samira Asgari & Beth A. Cimini & Ajay Nadig & Emily Peirent & Dhara Liyanage & Gregory P. Way & Erin Weisbart & Aparna Nathan & Tiffany Amariuta & Kevin Eggan & Marzi, 2024. "High-dimensional phenotyping to define the genetic basis of cellular morphology," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
52. Ilya G. Serebriiskii & Valery Pavlov & Rossella Tricarico & Grigorii Andrianov & Emmanuelle Nicolas & Mitchell I. Parker & Justin Newberg & Garrett Frampton & Joshua E. Meyer & Erica A. Golemis, 2022. "Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
53. Eva-Maria Stauffer & Richard A. I. Bethlehem & Lena Dorfschmidt & Hyejung Won & Varun Warrier & Edward T. Bullmore, 2023. "The genetic relationships between brain structure and schizophrenia," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
54. Yu Guo & Minjie Shen & Qiping Dong & Natasha M. Méndez-Albelo & Sabrina X. Huang & Carissa L. Sirois & Jonathan Le & Meng Li & Ezra D. Jarzembowski & Keegan A. Schoeller & Michael E. Stockton & Vaness, 2023. "Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway," Nature Communications, Nature, vol. 14(1), pages 1-23, December.
55. Zhuoran Xu & Quan Li & Luigi Marchionni & Kai Wang, 2023. "PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
56. Ieva Keraite & Philipp Becker & Davide Canevazzi & Cristina Frias-López & Marc Dabad & Raúl Tonda-Hernandez & Ida Paramonov & Matthew John Ingham & Isabelle Brun-Heath & Jordi Leno & Anna Abulí & Elen, 2022. "A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
57. Miguel M. Álvarez & Josep Biayna & Fran Supek, 2022. "TP53-dependent toxicity of CRISPR/Cas9 cuts is differential across genomic loci and can confound genetic screening," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
58. Young Jin Kim & Sanghoon Moon & Mi Yeong Hwang & Sohee Han & Hye-Mi Jang & Jinhwa Kong & Dong Mun Shin & Kyungheon Yoon & Sung Min Kim & Jong-Eun Lee & Anubha Mahajan & Hyun-Young Park & Mark I. McCar, 2022. "The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
59. Erik Schoenmakers & Federica Marelli & Helle F. Jørgensen & W. Edward Visser & Carla Moran & Stefan Groeneweg & Carolina Avalos & Sean J. Jurgens & Nichola Figg & Alison Finigan & Neha Wali & Maura Ag, 2023. "Selenoprotein deficiency disorder predisposes to aortic aneurysm formation," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
60. Laia Simó-Riudalbas & Sandra Offner & Evarist Planet & Julien Duc & Laurence Abrami & Sagane Dind & Alexandre Coudray & Mairene Coto-Llerena & Caner Ercan & Salvatore Piscuoglio & Claus Lindbjerg Ande, 2022. "Transposon-activated POU5F1B promotes colorectal cancer growth and metastasis," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
61. 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.
62. Federica Luppino & Ivan A. Adzhubei & Christopher A. Cassa & Agnes Toth-Petroczy, 2023. "DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
63. Sarah E. Garnish & Katherine R. Martin & Maria Kauppi & Victoria E. Jackson & Rebecca Ambrose & Vik Ven Eng & Shene Chiou & Yanxiang Meng & Daniel Frank & Emma C. Tovey Crutchfield & Komal M. Patel & , 2023. "A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
64. Anouk C. Jong & Alexandra Danyi & Job Riet & Ronald Wit & Martin Sjöström & Felix Feng & Jeroen Ridder & Martijn P. Lolkema, 2023. "Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning," Nature Communications, Nature, vol. 14(1), pages 1-19, December.
65. Paolo Tarantino & Hersh Gupta & Melissa E. Hughes & Janet Files & Sarah Strauss & Gregory Kirkner & Anne-Marie Feeney & Yvonne Li & Ana C. Garrido-Castro & Romualdo Barroso-Sousa & Brittany L. Bychkov, 2023. "Comprehensive genomic characterization of HER2-low and HER2-0 breast cancer," Nature Communications, Nature, vol. 14(1), pages 1-10, December.
66. Junho Kim & August Yue Huang & Shelby L. Johnson & Jenny Lai & Laura Isacco & Ailsa M. Jeffries & Michael B. Miller & Michael A. Lodato & Christopher A. Walsh & Eunjung Alice Lee, 2022. "Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
67. Matthias Wuttke & Eva König & Maria-Alexandra Katsara & Holger Kirsten & Saeed Khomeijani Farahani & Alexander Teumer & Yong Li & Martin Lang & Burulca Göcmen & Cristian Pattaro & Dorothee Günzel & An, 2023. "Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
68. 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.
69. Yukari Endo & Linda Groom & Alper Celik & Natalia Kraeva & Chang Seok Lee & Sung Yun Jung & Lois Gardner & Marie-Anne Shaw & Susan L. Hamilton & Philip M. Hopkins & Robert T. Dirksen & Sheila Riazi & , 2022. "Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
70. Benjamin B. Sun & Stephanie J. Loomis & Fabrizio Pizzagalli & Natalia Shatokhina & Jodie N. Painter & Christopher N. Foley & Megan E. Jensen & Donald G. McLaren & Sai Spandana Chintapalli & Alyssa H. , 2022. "Genetic map of regional sulcal morphology in the human brain from UK biobank data," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
71. Xiaoyi Raymond Gao & Marion Chiariglione & Alexander J. Arch, 2022. "Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma," Nature Communications, Nature, vol. 13(1), pages 1-10, December.
72. Shaan Khurshid & Julieta Lazarte & James P. Pirruccello & Lu-Chen Weng & Seung Hoan Choi & Amelia W. Hall & Xin Wang & Samuel F. Friedman & Victor Nauffal & Kiran J. Biddinger & Krishna G. Aragam & Pu, 2023. "Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
73. Derek W. Brown & Liam D. Cato & Yajie Zhao & Satish K. Nandakumar & Erik L. Bao & Eugene J. Gardner & Aubrey K. Hubbard & Alexander DePaulis & Thomas Rehling & Lei Song & Kai Yu & Stephen J. Chanock &, 2023. "Shared and distinct genetic etiologies for different types of clonal hematopoiesis," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
74. Sulagna Ghosh & Ralda Nehme & Lindy E. Barrett, 2022. "Greater genetic diversity is needed in human pluripotent stem cell models," Nature Communications, Nature, vol. 13(1), pages 1-7, December.
75. Lukas Gerasimavicius & Benjamin J. Livesey & Joseph A. Marsh, 2022. "Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
76. Hong Joo Kim & Payam Mohassel & Sandra Donkervoort & Lin Guo & Kevin O’Donovan & Maura Coughlin & Xaviere Lornage & Nicola Foulds & Simon R. Hammans & A. Reghan Foley & Charlotte M. Fare & Alice F. Fo, 2022. "Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
77. Javier Rodríguez-Ubreva & Anna Arutyunyan & Marc Jan Bonder & Lucía Del Pino-Molina & Stephen J. Clark & Carlos de la Calle-Fabregat & Luz Garcia-Alonso & Louis-François Handfield & Laura Ciudad & Edu, 2022. "Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
78. Qingbo S. Wang & Ryuya Edahiro & Ho Namkoong & Takanori Hasegawa & Yuya Shirai & Kyuto Sonehara & Hiromu Tanaka & Ho Lee & Ryunosuke Saiki & Takayoshi Hyugaji & Eigo Shimizu & Kotoe Katayama & Masahir, 2022. "The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force," Nature Communications, Nature, vol. 13(1), pages 1-19, December.
79. Michel S. Naslavsky & Marilia O. Scliar & Guilherme L. Yamamoto & Jaqueline Yu Ting Wang & Stepanka Zverinova & Tatiana Karp & Kelly Nunes & José Ricardo Magliocco Ceroni & Diego Lima Carvalho & Carlo, 2022. "Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
80. Ulrik Kristoffer Stoltze & Jon Foss-Skiftesvik & Thomas van Overeem Hansen & Simon Rasmussen & Konrad J. Karczewski & Karin A. W. Wadt & Kjeld Schmiegelow, 2024. "The evolutionary impact of childhood cancer on the human gene pool," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
81. Jiyeon Lee & Haeryung Lee & Hyein Lee & Miram Shin & Min-Gi Shin & Jinsoo Seo & Eun Jeong Lee & Sun Ah Park & Soochul Park, 2023. "ANKS1A regulates LDL receptor-related protein 1 (LRP1)-mediated cerebrovascular clearance in brain endothelial cells," Nature Communications, Nature, vol. 14(1), pages 1-20, December.
82. Nicole Deflaux & Margaret Sunitha Selvaraj & Henry Robert Condon & Kelsey Mayo & Sara Haidermota & Melissa A. Basford & Chris Lunt & Anthony A. Philippakis & Dan M. Roden & Joshua C. Denny & Anjene Mu, 2023. "Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis," Nature Communications, Nature, vol. 14(1), pages 1-10, December.
83. Stephanie M. Bilinovich & Kristy Lewis & Barbara L. Thompson & Jeremy W. Prokop & Daniel B. Campbell, 2020. "Environmental Epigenetics of Diesel Particulate Matter Toxicogenomics," IJERPH, MDPI, vol. 17(20), pages 1-13, October.
84. Martin Grønbæk-Thygesen & Vasileios Voutsinos & Kristoffer E. Johansson & Thea K. Schulze & Matteo Cagiada & Line Pedersen & Lene Clausen & Snehal Nariya & Rachel L. Powell & Amelie Stein & Douglas M., 2024. "Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
85. 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.
86. Andrea Wilderman & Eva D’haene & Machteld Baetens & Tara N. Yankee & Emma Wentworth Winchester & Nicole Glidden & Ellen Roets & Jo Dorpe & Sandra Janssens & Danny E. Miller & Miranda Galey & Kari M. B, 2024. "A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development," Nature Communications, Nature, vol. 15(1), pages 1-23, December.
87. Andrew D. Grotzinger & Travis T. Mallard & Zhaowen Liu & Jakob Seidlitz & Tian Ge & Jordan W. Smoller, 2023. "Multivariate genomic architecture of cortical thickness and surface area at multiple levels of analysis," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
88. 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.
89. Matteo Cagiada & Sandro Bottaro & Søren Lindemose & Signe M. Schenstrøm & Amelie Stein & Rasmus Hartmann-Petersen & Kresten Lindorff-Larsen, 2023. "Discovering functionally important sites in proteins," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
90. N. Shukla & M. F. Levine & G. Gundem & D. Domenico & B. Spitzer & N. Bouvier & J. E. Arango-Ossa & D. Glodzik & J. S. Medina-Martínez & U. Bhanot & J. Gutiérrez-Abril & Y. Zhou & E. Fiala & E. Stockfi, 2022. "Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
91. 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.
92. 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.
93. Md. Moksedul Momin & Jisu Shin & Soohyun Lee & Buu Truong & Beben Benyamin & S. Hong Lee, 2023. "A method for an unbiased estimate of cross-ancestry genetic correlation using individual-level data," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
94. H. Serhat Tetikol & Deniz Turgut & Kubra Narci & Gungor Budak & Ozem Kalay & Elif Arslan & Sinem Demirkaya-Budak & Alexey Dolgoborodov & Duygu Kabakci-Zorlu & Vladimir Semenyuk & Amit Jain & Brandi N., 2022. "Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
95. Andrew D. Grotzinger & Javier de la Fuente & Gail Davies & Michel G. Nivard & Elliot M. Tucker-Drob, 2022. "Transcriptome-wide and stratified genomic structural equation modeling identify neurobiological pathways shared across diverse cognitive traits," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
96. 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.
97. Manako Yamaguchi & Hirofumi Nakaoka & Kazuaki Suda & Kosuke Yoshihara & Tatsuya Ishiguro & Nozomi Yachida & Kyota Saito & Haruka Ueda & Kentaro Sugino & Yutaro Mori & Kaoru Yamawaki & Ryo Tamura & Sun, 2022. "Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
98. Mischan Vali-Pour & Solip Park & Jose Espinosa-Carrasco & Daniel Ortiz-Martínez & Ben Lehner & Fran Supek, 2022. "The impact of rare germline variants on human somatic mutation processes," Nature Communications, Nature, vol. 13(1), pages 1-21, December.
99. Mary-Ellen Lynall & Blagoje Soskic & James Hayhurst & Jeremy Schwartzentruber & Daniel F. Levey & Gita A. Pathak & Renato Polimanti & Joel Gelernter & Murray B. Stein & Gosia Trynka & Menna R. Clatwor, 2022. "Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
100. Chao Yang & Zhenzhen Ma & Keshan Wang & Xingxiao Dong & Meiyu Huang & Yaqiu Li & Xiagu Zhu & Ju Li & Zhihui Cheng & Changhao Bi & Xueli Zhang, 2023. "HMGN1 enhances CRISPR-directed dual-function A-to-G and C-to-G base editing," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
101. Lene Clausen & Vasileios Voutsinos & Matteo Cagiada & Kristoffer E. Johansson & Martin Grønbæk-Thygesen & Snehal Nariya & Rachel L. Powell & Magnus K. N. Have & Vibe H. Oestergaard & Amelie Stein & Do, 2024. "A mutational atlas for Parkin proteostasis," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
102. Wenan Chen & Shuoguo Wang & Saima Sultana Tithi & David W. Ellison & Daniel J. Schaid & Gang Wu, 2022. "A rare variant analysis framework using public genotype summary counts to prioritize disease-predisposition genes," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
103. Adrienne Tin & Pascal Schlosser & Pamela R. Matias-Garcia & Chris H. L. Thio & Roby Joehanes & Hongbo Liu & Zhi Yu & Antoine Weihs & Anselm Hoppmann & Franziska Grundner-Culemann & Josine L. Min & Vic, 2021. "Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus," Nature Communications, Nature, vol. 12(1), pages 1-18, December.
104. Elsa Leitão & Christopher Schröder & Ilaria Parenti & Carine Dalle & Agnès Rastetter & Theresa Kühnel & Alma Kuechler & Sabine Kaya & Bénédicte Gérard & Elise Schaefer & Caroline Nava & Nathalie Drouo, 2022. "Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
105. Saaket Agrawal & Minxian Wang & Marcus D. R. Klarqvist & Kirk Smith & Joseph Shin & Hesam Dashti & Nathaniel Diamant & Seung Hoan Choi & Sean J. Jurgens & Patrick T. Ellinor & Anthony Philippakis & Me, 2022. "Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
106. Remo Monti & Pia Rautenstrauch & Mahsa Ghanbari & Alva Rani James & Matthias Kirchler & Uwe Ohler & Stefan Konigorski & Christoph Lippert, 2022. "Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
107. Nazia Pathan & Wei Q. Deng & Matteo Di Scipio & Mohammad Khan & Shihong Mao & Robert W. Morton & Ricky Lali & Marie Pigeyre & Michael R. Chong & Guillaume Paré, 2024. "A method to estimate the contribution of rare coding variants to complex trait heritability," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
108. Pamela X. Y. Soh & Naledi Mmekwa & Desiree C. Petersen & Kazzem Gheybi & Smit van Zyl & Jue Jiang & Sean M. Patrick & Raymond Campbell & Weerachai Jaratlerdseri & Shingai B. A. Mutambirwa & M. S. Rian, 2023. "Prostate cancer genetic risk and associated aggressive disease in men of African ancestry," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
109. Ping Chun Wu & Yan Quan Lee & Mattias Möller & Jill R. Storry & Martin L. Olsson, 2023. "Elucidation of the low-expressing erythroid CR1 phenotype by bioinformatic mining of the GATA1-driven blood-group regulome," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
110. Daniela Klaproth-Andrade & Johannes Hingerl & Yanik Bruns & Nicholas H. Smith & Jakob Träuble & Mathias Wilhelm & Julien Gagneur, 2024. "Deep learning-driven fragment ion series classification enables highly precise and sensitive de novo peptide sequencing," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
111. Sahar Gelfman & Arden Moscati & Santiago Mendez Huergo & Rujin Wang & Veera Rajagopal & Neelroop Parikshak & Vijay Kumar Pounraja & Esteban Chen & Michelle Leblanc & Ralph Hazlewood & Jan Freudenberg , 2023. "A large meta-analysis identifies genes associated with anterior uveitis," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
112. Cristiane J. Nunes-Santos & HyeSun Kuehn & Brigette Boast & SuJin Hwang & Douglas B. Kuhns & Jennifer Stoddard & Julie E. Niemela & Danielle L. Fink & Stefania Pittaluga & Mones Abu-Asab & John S. Dav, 2023. "Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
113. Elizaveta Lyapina & Egor Marin & Anastasiia Gusach & Philipp Orekhov & Andrey Gerasimov & Aleksandra Luginina & Daniil Vakhrameev & Margarita Ergasheva & Margarita Kovaleva & Georgii Khusainov & Polin, 2022. "Structural basis for receptor selectivity and inverse agonism in S1P5 receptors," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
114. Stephanie O. Erjavec & Sahar Gelfman & Alexa R. Abdelaziz & Eunice Y. Lee & Isha Monga & Anna Alkelai & Iuliana Ionita-Laza & Lynn Petukhova & Angela M. Christiano, 2022. "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
115. Yirong Shi & Yiwei Niu & Peng Zhang & Huaxia Luo & Shuai Liu & Sijia Zhang & Jiajia Wang & Yanyan Li & Xinyue Liu & Tingrui Song & Tao Xu & Shunmin He, 2023. "Characterization of genome-wide STR variation in 6487 human genomes," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
116. Jörn Bethune & April Kleppe & Søren Besenbacher, 2022. "A method to build extended sequence context models of point mutations and indels," Nature Communications, Nature, vol. 13(1), pages 1-10, December.