Nature genetics最新文献

{"title":"Grapevine pangenome facilitates trait genetics and genomic breeding","authors":"Zhongjie Liu, Nan Wang, Ying Su, Qiming Long, Yanling Peng, Lingfei Shangguan, Fan Zhang, Shuo Cao, Xu Wang, Mengqing Ge, Hui Xue, Zhiyao Ma, Wenwen Liu, Xiaodong Xu, Chaochao Li, Xuejing Cao, Bilal Ahmad, Xiangnian Su, Yuting Liu, Guizhou Huang, Mengrui Du, Zhenya Liu, Yu Gan, Lei Sun, Xiucai Fan, Chuan Zhang, Haixia Zhong, Xiangpeng Leng, Yanhua Ren, Tianyu Dong, Dan Pei, Xinyu Wu, Zhongxin Jin, Yiwen Wang, Chonghuai Liu, Jinfeng Chen, Brandon Gaut, Sanwen Huang, Jinggui Fang, Hua Xiao, Yongfeng Zhou","doi":"10.1038/s41588-024-01967-5","DOIUrl":"https://doi.org/10.1038/s41588-024-01967-5","url":null,"abstract":"<p>Grapevine breeding is hindered by a limited understanding of the genetic basis of complex agronomic traits. This study constructs a graph-based pangenome reference (Grapepan v.1.0) from 18 newly generated phased telomere-to-telomere assemblies and 11 published assemblies. Using Grapepan v.1.0, we build a variation map with 9,105,787 short variations and 236,449 structural variations (SVs) from the resequencing data of 466 grapevine cultivars. Integrating SVs into a genome-wide association study, we map 148 quantitative trait loci for 29 agronomic traits (50.7% newly identified), with 12 traits significantly contributed by SVs. The estimated heritability improves by 22.78% on average when including SVs. We discovered quantitative trait locus regions under divergent artificial selection in metabolism and berry development between wine and table grapes, respectively. Moreover, significant genetic correlations were detected among the 29 traits. Under a polygenic model, we conducted genomic predictions for each trait. In general, our study facilitates the breeding of superior cultivars via the genomic selection of multiple traits.</p>","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"1 1","pages":""},"PeriodicalIF":30.8,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142574511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Author Correction: Systematic assessment of ISWI subunits shows that NURF creates local accessibility for CTCF","authors":"Mario Iurlaro,&nbsp;Francesca Masoni,&nbsp;Ilya M. Flyamer,&nbsp;Christiane Wirbelauer,&nbsp;Murat Iskar,&nbsp;Lukas Burger,&nbsp;Luca Giorgetti,&nbsp;Dirk Schübeler","doi":"10.1038/s41588-024-01985-3","DOIUrl":"10.1038/s41588-024-01985-3","url":null,"abstract":"","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2574-2575"},"PeriodicalIF":31.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41588-024-01985-3.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates","authors":"Peter J. Freeman,&nbsp;John F. Wagstaff,&nbsp;Ivo F. A. C. Fokkema,&nbsp;Garry R. Cutting,&nbsp;Heidi L. Rehm,&nbsp;Angela C. Davies,&nbsp;Johan T. den Dunnen,&nbsp;Liam J. Gretton,&nbsp;Raymond Dalgleish","doi":"10.1038/s41588-024-02001-4","DOIUrl":"10.1038/s41588-024-02001-4","url":null,"abstract":"","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2574-2574"},"PeriodicalIF":31.7,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41588-024-02001-4.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142536905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Convergence and divergence of diploid and tetraploid cotton genomes","authors":"Jianying Li,&nbsp;Zhenping Liu,&nbsp;Chunyuan You,&nbsp;Zhengyang Qi,&nbsp;Jiaqi You,&nbsp;Corrinne E. Grover,&nbsp;Yuexuan Long,&nbsp;Xianhui Huang,&nbsp;Sifan Lu,&nbsp;Yuejin Wang,&nbsp;Sainan Zhang,&nbsp;Yawen Wang,&nbsp;Ruizhe Bai,&nbsp;Mengke Zhang,&nbsp;Shuangxia Jin,&nbsp;Xinhui Nie,&nbsp;Jonathan F. Wendel,&nbsp;Xianlong Zhang,&nbsp;Maojun Wang","doi":"10.1038/s41588-024-01964-8","DOIUrl":"10.1038/s41588-024-01964-8","url":null,"abstract":"Polyploidy is an important driving force in speciation and evolution; however, the genomic basis for parallel selection of a particular trait between polyploids and ancestral diploids remains unexplored. Here we construct graph-based pan-genomes for diploid (A2) and allotetraploid (AD1) cotton species, enabled by an assembly of 50 genomes of genetically diverse accessions. We delineate a mosaic genome map of tetraploid cultivars that illustrates genomic contributions from semi-wild forms into modern cultivars. Pan-genome comparisons identify syntenic and hyper-divergent regions of continued variation between diploid and tetraploid cottons, and suggest an ongoing process of sequence evolution potentially linked to the contrasting genome size change in two subgenomes. We highlight 43% of genetic regulatory relationships for gene expression in diploid encompassing sequence divergence after polyploidy, and specifically characterize six underexplored convergent genetic loci contributing to parallel selection of fiber quality. This study offers a framework for pan-genomic dissection of genetic regulatory components underlying parallel selection of desirable traits in organisms. High-quality assemblies of 15 diploid and 35 allotetraploid cotton accessions are analyzed in graph-based pan-genomes, providing insights into genome dynamics and regulatory control of fiber transcriptomes under varying ploidy and selection pressures.","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2562-2573"},"PeriodicalIF":31.7,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142536626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene-based burden tests of rare germline variants identify six cancer susceptibility genes","authors":"Erna V. Ivarsdottir,&nbsp;Julius Gudmundsson,&nbsp;Vinicius Tragante,&nbsp;Gardar Sveinbjornsson,&nbsp;Snaedis Kristmundsdottir,&nbsp;Simon N. Stacey,&nbsp;Gisli H. Halldorsson,&nbsp;Magnus I. Magnusson,&nbsp;Asmundur Oddsson,&nbsp;G. Bragi Walters,&nbsp;Asgeir Sigurdsson,&nbsp;Saedis Saevarsdottir,&nbsp;Doruk Beyter,&nbsp;Gudmar Thorleifsson,&nbsp;Bjarni V. Halldorsson,&nbsp;Pall Melsted,&nbsp;Hreinn Stefansson,&nbsp;Ingileif Jonsdottir,&nbsp;Erik Sørensen,&nbsp;Ole B. Pedersen,&nbsp;Christian Erikstrup,&nbsp;Martin Bøgsted,&nbsp;Mette Pøhl,&nbsp;Andreas Røder,&nbsp;Hein Vincent Stroomberg,&nbsp;Ismail Gögenur,&nbsp;Jens Hillingsø,&nbsp;Stig E. Bojesen,&nbsp;Ulrik Lassen,&nbsp;Estrid Høgdall,&nbsp;Henrik Ullum,&nbsp;Søren Brunak,&nbsp;Sisse R. Ostrowski,&nbsp;DBDS Genomic Consortium,&nbsp;Ida Elken Sonderby,&nbsp;Oleksandr Frei,&nbsp;Srdjan Djurovic,&nbsp;Alexandra Havdahl,&nbsp;Pal Moller,&nbsp;Mev Dominguez-Valentin,&nbsp;Jan Haavik,&nbsp;Ole A. Andreassen,&nbsp;Eivind Hovig,&nbsp;Bjarni A. Agnarsson,&nbsp;Rafn Hilmarsson,&nbsp;Oskar Th. Johannsson,&nbsp;Trausti Valdimarsson,&nbsp;Steinn Jonsson,&nbsp;Pall H. Moller,&nbsp;Jon H. Olafsson,&nbsp;Bardur Sigurgeirsson,&nbsp;Jon G. Jonasson,&nbsp;Geir Tryggvason,&nbsp;Hilma Holm,&nbsp;Patrick Sulem,&nbsp;Thorunn Rafnar,&nbsp;Daniel F. Gudbjartsson,&nbsp;Kari Stefansson","doi":"10.1038/s41588-024-01966-6","DOIUrl":"10.1038/s41588-024-01966-6","url":null,"abstract":"Discovery of cancer risk variants in the sequence of the germline genome can shed light on carcinogenesis. Here we describe gene burden association analyses, aggregating rare missense and loss of function variants, at 22 cancer sites, including 130,991 cancer cases and 733,486 controls from Iceland, Norway and the United Kingdom. We identified four genes associated with increased cancer risk; the pro-apoptotic BIK for prostate cancer, the autophagy involved ATG12 for colorectal cancer, TG for thyroid cancer and CMTR2 for both lung cancer and cutaneous melanoma. Further, we found genes with rare variants that associate with decreased risk of cancer; AURKB for any cancer, irrespective of site, and PPP1R15A for breast cancer, suggesting that inhibition of PPP1R15A may be a preventive strategy for breast cancer. Our findings pinpoint several new cancer risk genes and emphasize autophagy, apoptosis and cell stress response as a focus point for developing new therapeutics. Burden testing in three large European ancestry cohorts identifies new risk genes for a number of common cancer types, including pan-cancer protective variants in AURKB and breast cancer protective variants in PPP1R15A.","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2422-2433"},"PeriodicalIF":31.7,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142536566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obesity-dependent selection of driver mutations in cancer","authors":"Cerise Tang,&nbsp;Venise Jan Castillon,&nbsp;Michele Waters,&nbsp;Chris Fong,&nbsp;Tricia Park,&nbsp;Sonia Boscenco,&nbsp;Susie Kim,&nbsp;Kelly Pekala,&nbsp;Jian Carrot-Zhang,&nbsp;A. Ari Hakimi,&nbsp;Nikolaus Schultz,&nbsp;Irina Ostrovnaya,&nbsp;Alexander Gusev,&nbsp;Justin Jee,&nbsp;Ed Reznik","doi":"10.1038/s41588-024-01969-3","DOIUrl":"10.1038/s41588-024-01969-3","url":null,"abstract":"Obesity is a risk factor for cancer, but whether obesity is linked to specific genomic subtypes of cancer is unknown. We examined the relationship between obesity and tumor genotype in two clinicogenomic corpora. Obesity was associated with specific driver mutations in lung adenocarcinoma, endometrial carcinoma and cancers of unknown primaries, independent of clinical covariates, demographic factors and genetic ancestry. Obesity is therefore a driver of etiological heterogeneity in some cancers. Analysis of pan-cancer clinical genomic sequencing finds that body mass index associates with driver mutations in certain cancer types, including most prominently lung adenocarcinoma. Obesity may thus influence tumor genetics.","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2318-2321"},"PeriodicalIF":31.7,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41588-024-01969-3.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142519260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mapping drug resistance variants in cancer, one base at a time","authors":"","doi":"10.1038/s41588-024-01976-4","DOIUrl":"10.1038/s41588-024-01976-4","url":null,"abstract":"DNA variants arising in the genome of cancer cells are a major cause of therapy failure, but for most variants, their effects on drug response are unknown. Base-editing screens provide a systematic approach to uncover the functions of cancer variants at scale, which might help to inform the use of precision cancer therapies.","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2308-2309"},"PeriodicalIF":31.7,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142489209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification","authors":"Simone M. Haag,&nbsp;Shiqi Xie,&nbsp;Celine Eidenschenk,&nbsp;Jean-Philippe Fortin,&nbsp;Marinella Callow,&nbsp;Mike Costa,&nbsp;Aaron Lun,&nbsp;Chris Cox,&nbsp;Sunny Z. Wu,&nbsp;Rachana N. Pradhan,&nbsp;Jaclyn Lock,&nbsp;Julia A. Kuhn,&nbsp;Loryn Holokai,&nbsp;Minh Thai,&nbsp;Emily Freund,&nbsp;Ariane Nissenbaum,&nbsp;Mary Keir,&nbsp;Christopher J. Bohlen,&nbsp;Scott Martin,&nbsp;Kathryn Geiger-Schuller,&nbsp;Hussein A. Hejase,&nbsp;Brian L. Yaspan,&nbsp;Sandra Melo Carlos,&nbsp;Shannon J. Turley,&nbsp;Aditya Murthy","doi":"10.1038/s41588-024-01962-w","DOIUrl":"10.1038/s41588-024-01962-w","url":null,"abstract":"Macrophages exhibit remarkable functional plasticity, a requirement for their central role in tissue homeostasis. During chronic inflammation, macrophages acquire sustained inflammatory ‘states’ that contribute to disease, but there is limited understanding of the regulatory mechanisms that drive their generation. Here we describe a systematic functional genomics approach that combines genome-wide phenotypic screening in primary murine macrophages with transcriptional and cytokine profiling of genetic perturbations in primary human macrophages to uncover regulatory circuits of inflammatory states. This process identifies regulators of five distinct states associated with key features of macrophage function. Among these regulators, loss of the N6-methyladenosine (m6A) writer components abolishes m6A modification of TNF transcripts, thereby enhancing mRNA stability and TNF production associated with multiple inflammatory pathologies. Thus, phenotypic characterization of primary murine and human macrophages describes the regulatory circuits underlying distinct inflammatory states, revealing post-transcriptional control of TNF mRNA stability as an immunosuppressive mechanism in innate immunity. Functional screens using mouse and human primary macrophages identify regulators of distinct inflammatory states, including a role for m6A mRNA modification in TNF production.","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2493-2505"},"PeriodicalIF":31.7,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142487082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Publisher Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes","authors":"Alicia Huerta-Chagoya,&nbsp;Philip Schroeder,&nbsp;Ravi Mandla,&nbsp;Jiang Li,&nbsp;Lowri Morris,&nbsp;Maheak Vora,&nbsp;Ahmed Alkanaq,&nbsp;Dorka Nagy,&nbsp;Lukasz Szczerbinski,&nbsp;Jesper G. S. Madsen,&nbsp;Silvia Bonàs-Guarch,&nbsp;Fanny Mollandin,&nbsp;Joanne B. Cole,&nbsp;Bianca Porneala,&nbsp;Kenneth Westerman,&nbsp;Josephine H. Li,&nbsp;Toni I. Pollin,&nbsp;Jose C. Florez,&nbsp;Anna L. Gloyn,&nbsp;David J. Carey,&nbsp;Inês Cebola,&nbsp;Uyenlinh L. Mirshahi,&nbsp;Alisa K. Manning,&nbsp;Aaron Leong,&nbsp;Miriam Udler,&nbsp;Josep M. Mercader","doi":"10.1038/s41588-024-01986-2","DOIUrl":"10.1038/s41588-024-01986-2","url":null,"abstract":"","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2576-2576"},"PeriodicalIF":31.7,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41588-024-01986-2.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142486678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon","authors":"Angelica Maria Delgado-Vega,&nbsp;Helene Cederroth,&nbsp;Fulya Taylan,&nbsp;Katja Ekholm,&nbsp;Marlene Ek,&nbsp;Håkan Thonberg,&nbsp;Anders Jemt,&nbsp;Daniel Nilsson,&nbsp;Jesper Eisfeldt,&nbsp;Kristine Bilgrav Saether,&nbsp;Ida Höijer,&nbsp;Ozlem Akgun-Dogan,&nbsp;Yui Asano,&nbsp;Tahsin Stefan Barakat,&nbsp;Dominyka Batkovskyte,&nbsp;Gareth Baynam,&nbsp;Olaf Bodamer,&nbsp;Wanna Chetruengchai,&nbsp;Pádraic Corcoran,&nbsp;Madeline Couse,&nbsp;Daniel Danis,&nbsp;German Demidov,&nbsp;Eisuke Dohi,&nbsp;Mattias Erhardsson,&nbsp;Luis Fernandez-Luna,&nbsp;Toyofumi Fujiwara,&nbsp;Neha Garg,&nbsp;Roberto Giugliani,&nbsp;Claudia Gonzaga-Jauregui,&nbsp;Giedre Grigelioniene,&nbsp;Tudor Groza,&nbsp;Cecilia Gunnarsson,&nbsp;Anna Hammarsjö,&nbsp;Charles Kumi Hammond,&nbsp;Özden Hatirnaz Ng,&nbsp;Sirisha Hesketh,&nbsp;Dineshani Hettiarachchi,&nbsp;Maria Johansson Soller,&nbsp;Umn Ahmed Kirmani,&nbsp;Martin Kjellberg,&nbsp;Malin Kvarnung,&nbsp;Oleg Kvlividze,&nbsp;Kristina Lagerstedt-Robinson,&nbsp;Paul Lasko,&nbsp;Timo Lassmann,&nbsp;Lynette Y. S. Lau,&nbsp;Steven Laurie,&nbsp;Weng Khong Lim,&nbsp;Zhandong Liu,&nbsp;Mariya Lysenkova Wiklander,&nbsp;Prince Makay,&nbsp;Alassane Baneye Maiga,&nbsp;Carolina Maya-González,&nbsp;M. Stephen Meyn,&nbsp;Ramprasad Neethiraj,&nbsp;Vincenzo Nigro,&nbsp;Felix Nordgren,&nbsp;Jessica Nordlund,&nbsp;Sara Orrsjö,&nbsp;Jesper Ottosson,&nbsp;Ugur Ozbek,&nbsp;Özkan Özdemir,&nbsp;Clyde Partin,&nbsp;David A. Pearce,&nbsp;Raquel Peck,&nbsp;Annie Pedersen,&nbsp;Maria Pettersson,&nbsp;Monnat Pongpanich,&nbsp;Manuel Posada de la Paz,&nbsp;Arun Ramani,&nbsp;Juan Andres Romero,&nbsp;Vanessa I. Romero,&nbsp;Richard Rosenquist,&nbsp;Aung Min Saw,&nbsp;Matthew Spencer,&nbsp;Eva-Lena Stattin,&nbsp;Chalurmpon Srichomthong,&nbsp;Isabel Tapia-Paez,&nbsp;Domenica Taruscio,&nbsp;Julie P. Taylor,&nbsp;Tinatin Tkemaladze,&nbsp;Ian Tully,&nbsp;Zeynep Tümer,&nbsp;Wendy A. G. van Zelst-Stams,&nbsp;Alain Verloes,&nbsp;Emma Västerviga,&nbsp;Sailan Wang,&nbsp;Rachel Yang,&nbsp;Shinya Yamamoto,&nbsp;Vicente A. Yépez,&nbsp;Qing Zhang,&nbsp;Vorasuk Shotelersuk,&nbsp;Samuel Agyei Wiafe,&nbsp;Yasemin Alanay,&nbsp;Lorenzo D. Botto,&nbsp;Salman Kirmani,&nbsp;Aimé Lumaka,&nbsp;Elizabeth Emma Palmer,&nbsp;Ratna Dua Puri,&nbsp;Valtteri Wirta,&nbsp;Anna Lindstrand,&nbsp;Orion J. Buske,&nbsp;Mikk Cederroth,&nbsp;Ann Nordgren","doi":"10.1038/s41588-024-01941-1","DOIUrl":"10.1038/s41588-024-01941-1","url":null,"abstract":"In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2287-2294"},"PeriodicalIF":31.7,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142451819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}