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1st International Conference on Information and Communications Technology, ICOIACT 2018

作者： Surjandy Anindra, Firman Soeparno, Haryono Napitupulu, Togar Alam Computer Science Department BINUS Graduate Program - Doctor of Computer Science Bina Nusantara University Jakarta11480 Indonesia Computer Science Departement BINUS Graduate Program - Master of Computer Science Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Departement of Informatics and Communication Universitas Nasional Jakarta12520 Indonesia Information Systems Department BINUS Graduate Program - Master of Information Systems Bina Nusantara University Jakarta11480 Indonesia

ISBN: (纸本)9781538609545

Congestion in Jakarta is a chronic problem and is still being sought. The growing city of Jakarta is facing various international events, increasing the complexity of these congestion problems. This research is aimed to propose an alternative solution for congestion problem in Jakarta using Cased-Based Reasoning (CBR) approach on Pejompongan area. The CBR integrated model analyzes congestion at a given point in a particular hour to identify the same case. The Cased-Based Management (CBM) algorithm approach is used to capture transient problems and ultimately reduce case base cases for their contribution to long-term maintenance. Congestion data is obtained from CCTV cameras via website *** in some strategic areas. With that data, we use CBR's integrated model to adjust traffic time for traffic flow to be optimized so that congestion will decompose. The results of this study can be used by relevant government agencies and policymakers in Jakarta to formulate the best solution to solve the congestion problem in the Indonesian capital. Image analysis at nights and bad weather conditions become a limitation and also the integration with traffic lights control in this paper that can be a new topic for further research. © 2018 IEEE.

关键词： Traffic congestion

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Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population

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Science advances 2025年第23期11卷 eadt0539页

作者： Ting-Yuan Liu Hsing-Fang Lu Yu-Chia Chen Chi-Chou Liao Ying-Ju Lin Jai-Sing Yang Wen-Ling Liao Wei-De Lin Shih-Yin Chen Yu-Chuen Huang Wei-Yong Lin Yu-Huei Liu Kai-Cheng Hsu Shih-Sheng Chang Hong-Da Chen Yu-Pao Chou Jan-Gowth Chang Chung-Hsing Wang Chwen-Tzuei Chang Chung-Ming Huang Kai-Jieh Yeo Tzu-Yuan Wang Chin-Chung Yeh Jiunn-Horng Chen Chi-Ping Huang Hsueh-Chou Lai Rong-Hsing Chen Hui-Ju Lin Po-Yuan Wu Jiu-Yao Wang Chin-Chi Kuo Der-Yang Cho Chang-Hai Tsai Fuu-Jen Tsai Million-person precision medicine initiative Department of Medical Research China Medical University Hospital Taichung 40402 Taiwan. Master Program for Digital Health Innovation China Medical University Taichung 406040 Taiwan. Department of Medical Research China Medical University Hospital Taichung 40402 Taiwan. Genetic Center Department of Medical Research China Medical University Hospital Taichung 40402 Taiwan. School of Post Baccalaureate Chinese Medicine China Medical University Taichung 404333 Taiwan. Graduate Institute of Integrated Medicine College of Chinese Medicine China Medical University Taichung 406040 Taiwan. Center for Personalized Medicine Department of Medical Research China Medical University Hospital Taichung 406040 Taiwan. School of Chinese Medicine China Medical University Taichung 406040 Taiwan. Drug Development Center China Medical University Taichung 406040 Taiwan. Artificial Intelligence Center China Medical University Hospital Taichung 40402 Taiwan. Department of Neurology China Medical University Hospital Taichung 40402 Taiwan. Department of Medicine China Medical University Taichung 406040 Taiwan. Department of Laboratory Medicine China Medical University Hospital Taichung 40402 Taiwan. Department of Bioinformatics and Medical Engineering Asia University Taichung 41300 Taiwan. Department of Medical Laboratory Science and Biotechnology China Medical University Taichung Taiwan. Division of Genetics and Metabolism Children's Hospital of China Medical University Taichung 404447 Taiwan. Intelligent Diabetes Metabolism and Exercise Center Department of Internal Medicine China Medical University Hospital Taichung 40402 Taiwan. Division of Immunology and Rheumatology Department of Internal Medicine China Medical University Hospital Taichung 40402 Taiwan. Division of Endocrine and Metabolism China Medical University Hospital Taichung 40402 Taiwan. Department of Urology China Medical University Hospital Taichung 40402 Taiwan. Cen

We addressed the underrepresentation of non-European populations in genome-wide association studies (GWASs) by building HiGenome, a large-scale genetic resource for the Taiwanese Han population. Using a custom genotyping array, we integrated deidentified electronic medical records (2003 to 2021) with genomic data to enable GWASs, phenome-wide association studies, and polygenic risk score (PRS) analysis. Among 413,000 participants, 323,397 passed ancestry and quality control filtering. GWASs covered 1085 traits, focusing on diseases prevalent in Taiwan such as type 2 diabetes, chronic kidney disease, gout, and alcoholic liver damage. PRSs were calculated for 238 traits, with the strongest associations observed in musculoskeletal disorders. Incorporating PRS into clinical practice supports early risk prediction and personalized prevention. To further expand translational value, we also conducted pharmacogenomic analysis and human leukocyte antigen typing. HiGenome offers a large-scale genetic and clinical dataset from the Taiwanese Han population, supporting population-specific analyses and precision medicine development in East Asia. The hospital-based design enables continuous follow-up and longitudinal data expansion.

关键词： Risk assessment

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Correction: Inhibition of IRP2-dependent reprogramming of iron metabolism suppresses tumor growth in colorectal cancer

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Cell communication and signaling : CCS 2024年第1期22卷 480页

作者： Jieon Hwang Areum Park Chinwoo Kim Chang Gon Kim Jaesung Kwak Byungil Kim Hyunjin Shin Minhee Ku Jaemoon Yang Ayoung Baek Jiwon Choi Hocheol Lim Kyoung Tai No Xianghua Zhao Uyeong Choi Tae Il Kim Kyu-Sung Jeong Hyuk Lee Sang Joon Shin Department of Medicine Yonsei University College of Medicine Seoul 03722 Korea. Songdang Institute for Cancer Research Yonsei University College of Medicine Seoul 03722 Korea. Infectious Diseases Therapeutic Research Center Korea Research Institute of Chemical Technology Daejeon 34114 Korea. Department of Chemistry Yonsei University Seoul 03722 Korea. Division of Medical Oncology Department of Internal Medicine Yonsei Cancer Center Yonsei University College of Medicine Seoul 03722 Korea. Department of Radiology Yonsei University College of Medicine Seoul 03722 Korea. Convergence Research Center for Systems Molecular Radiological Science Yonsei University Seoul 03722 Korea. Bioinformatics and Molecular Design Research Center Incheon 21983 Korea. College of Pharmacy Dongduk Women's University Seoul 02748 Korea. The Interdisciplinary Graduate Program in Integrative Biotechnology & Translational Medicine Yonsei University Incheon 21983 Korea. Division of Gastroenterology Department of Internal Medicine Yonsei University College of Medicine Seoul 03722 Korea. Infectious Diseases Therapeutic Research Center Korea Research Institute of Chemical Technology Daejeon 34114 Korea. leeh@krict.re.kr. Songdang Institute for Cancer Research Yonsei University College of Medicine Seoul 03722 Korea. ssj338@yuhs.ac. Division of Medical Oncology Department of Internal Medicine Yonsei Cancer Center Yonsei University College of Medicine Seoul 03722 Korea. ssj338@yuhs.ac. Convergence Research Center for Systems Molecular Radiological Science Yonsei University Seoul 03722 Korea. ssj338@yuhs.ac.

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An Improved Version of Texture-based Foreground Segmentation: Block-based Adaptive Segmenter

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Procedia Computer Science 2018年 135卷 579-586页

作者： Kahlil Muchtar Faris Rahman Tjeng Wawan Cenggoro Arif Budiarto Bens Pardamean Nodeflux Inc. Jakarta Indonesia Syiah Kuala University Aceh Indonesia Computer Science Department School of Computer Science Bina Nusantara University Jakarta Indonesia 11480 Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta Indonesia 11480 Computer Science Department BINUS Graduate Program - Master of Computer Science Program Bina Nusantara University Jakarta Indonesia 11480

Foreground segmentation is one of moving object detection techniques of computer vision applications. To date, modern moving object detection methods require complex background modeling and thresholds tuning to confront illumination changes. This paper proposes an adaptive approach based on non-overlapping block texture representation. It aims to design a computationally light and efficient solution to improve the robustness of detection. We evaluate our proposed method on internal and public sequences and provide the quantitative and qualitative measurements. Experimental results show that the proposed method can improve the results of previous method and suitable for real-time challenges.

关键词： change detection foreground segmentation texture features

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Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil (vol 13, 1004, 2022)

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NATURE COMMUNICATIONS 2022年第1期13卷 1-11页

作者： Naslavsky, Michel S. Scliar, Marilia O. Yamamoto, Guilherme L. Wang, Jaqueline Yu Ting Zverinova, Stepanka Karp, Tatiana Nunes, Kelly Ceroni, Jose Ricardo Magliocco de Carvalho, Diego Lima da Silva Simoes, Carlos Eduardo Bozoklian, Daniel Nonaka, Ricardo dos Santos Brito Silva, Nayane da Silva Souza, Andreia de Souza Andrade, Heloisa Passos, Marilia Rodrigues Silva Castro, Camila Ferreira Bannwart Mendes-Junior, Celso T. Mercuri, Rafael L. V. Miller, Thiago L. A. Buzzo, Jose Leonel Rego, Fernanda O. Araujo, Nathalia M. Magalhaes, Wagner C. S. Mingroni-Netto, Regina Celia Borda, Victor Guio, Heinner Rojas, Carlos P. Sanchez, Cesar Caceres, Omar Dean, Michael Barreto, Mauricio L. Lima-Costa, Maria Fernanda Horta, Bernardo L. Tarazona-Santos, Eduardo Meyer, Diogo Galante, Pedro A. F. Guryev, Victor Castelli, Erick C. Duarte, Yeda A. O. Passos-Bueno, Maria Rita Zatz, Mayana Human Genome and Stem Cell Research Center University of São Paulo São Paulo SP Brazil Department of Genetics and Evolutionary Biology Biosciences Institute University of São Paulo São Paulo SP Brazil Hospital Israelita Albert Einstein São Paulo SP Brazil Instituto da Criança Faculdade de Medicina da Universidade de São Paulo São Paulo SP Brazil Orthopedic Research Labs Boston Children’s Hospital and Department of Genetics Harvard Medical School Boston MA USA Laboratório DASA São Paulo Brazil Laboratory of Genome Structure and Ageing European Research Institute for the Biology of Ageing University Medical Center Groningen Groningen Netherlands São Paulo State University (UNESP) Molecular Genetics and Bioinformatics Laboratory School of Medicine Botucatu State of São Paulo Brazil São Paulo State University (UNESP) Department of Pathology School of Medicine Botucatu State of São Paulo Brazil Departamento de Química Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São Paulo Ribeirão Preto São Paulo Brazil Centro de Oncologia Molecular Hospital Sirio-Libanes São Paulo Brazil Department of Biochemistry Institute of Chemistry University of São Paulo São Paulo São Paulo Brazil Bioinformatics Graduate program University of São Paulo São Paulo Brazil Departamento de Genética Ecologia e Evolução Instituto de Ciências Biológicas Universidade Federal de Minas Gerais Belo Horizonte MG Brazil Núcleo de Ensino e Pesquisa Instituto Mário Penna Belo Horizonte MG Brazil Laboratorio de Biotecnologia y Biologia Molecular Instituto Nacional de Salud Lima Peru Universidad de Huánuco Huánuco Peru Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA Instituto de Saúde Coletiva Universidade Federal da Bahia Salvador BA 40110-040 Brazil Center for Data and Knowledge Integration for Health Institute Gonçalo Muniz Fundação Oswaldo Cruz Salvador BA Brazil Instituto de Pesquisas René Rachou Fundação Os

As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly admixed elderly Brazilians from a census-based cohort, providing over 76 million variants, of which ~2 million are absent from large public databases. WGS enables identification of ~2,000 previously undescribed mobile element insertions without previous description, nearly 5 Mb of genomic segments absent from the human genome reference, and over 140 alleles from HLA genes absent from public resources. We reclassify and curate pathogenicity assertions for nearly four hundred variants in genes associated with dominantly-inherited Mendelian disorders and calculate the incidence for selected recessive disorders, demonstrating the clinical usefulness of the present study. Finally, we observe that whole-genome and HLA imputation could be significantly improved compared to available datasets since rare variation represents the largest proportion of input from WGS. These results demonstrate that even smaller sample sizes of underrepresented populations bring relevant data for genomic studies, especially when exploring analyses allowed only by WGS.

关键词： Data publication and archiving Haplotypes Mobile elements Rare variants Structural variation

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Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk

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European journal of human genetics : EJHG 2022年第5期30卷 630-631页

作者： Eileen O Dareng Jonathan P Tyrer Daniel R Barnes Michelle R Jones Xin Yang Katja K H Aben Muriel A Adank Simona Agata Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Gerasimos Aravantinos Banu K Arun Annelie Augustinsson Judith Balmaña Elisa V Bandera Rosa B Barkardottir Daniel Barrowdale Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Line Bjorge Amanda Black Natalia V Bogdanova Bernardo Bonanni Ake Borg James D Brenton Agnieszka Budzilowska Ralf Butzow Saundra S Buys Hui Cai Maria A Caligo Ian Campbell Rikki Cannioto Hayley Cassingham Jenny Chang-Claude Stephen J Chanock Kexin Chen Yoke-Eng Chiew Wendy K Chung Kathleen B M Claes Sarah Colonna Linda S Cook Fergus J Couch Mary B Daly Fanny Dao Eleanor Davies Miguel de la Hoya Robin de Putter Joe Dennis Allison DePersia Peter Devilee Orland Diez Yuan Chun Ding Jennifer A Doherty Susan M Domchek Thilo Dörk Andreas du Bois Matthias Dürst Diana M Eccles Heather A Eliassen Christoph Engel Gareth D Evans Peter A Fasching James M Flanagan Renée T Fortner Eva Machackova Eitan Friedman Patricia A Ganz Judy Garber Francesca Gensini Graham G Giles Gord Glendon Andrew K Godwin Marc T Goodman Mark H Greene Jacek Gronwald Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Holly R Harris Mikael Hartman Florian Heitz Michelle A T Hildebrandt Estrid Høgdall Claus K Høgdall John L Hopper Ruea-Yea Huang Chad Huff Peter J Hulick David G Huntsman Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul A James Ramunas Janavicius Allan Jensen Oskar Th Johannsson Esther M John Michael E Jones Daehee Kang Beth Y Karlan Anthony Karnezis Linda E Kelemen Elza Khusnutdinova Lambertus A Kiemeney Byoung-Gie Kim Susanne K Kjaer Ian Komenaka Jolanta Kupryjanczyk Allison W Kurian Ava Kwong Diether Lambrechts Melissa C Larson Conxi Lazaro Nhu D Le Goska Leslie Jenny Lester Fabienne Lesueur Douglas A Levine Lian Li Jingmei Li Jennifer T Loud Karen H Lu Jan Lubiński Phuong L Mai Siranoush Manoukian Jeffrey R Marks Ra University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK. University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK. Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA. Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands. Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands. The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands. Veneto Institute of Oncology IOV-IRCCS Immunology and Molecular Oncology Unit Padua Italy. Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada. University of Toronto Department of Molecular Genetics Toronto ON Canada. University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA. N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus. 'Agii Anargiri' Cancer Hospital Athens Greece. University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA. Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden. Vall d'Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain. University Hospital of Vall d'Hebron Department of Medical Oncology Barcelona Spain. Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA. Landspitali University Hospital Department of Pathology Reykjavik Iceland. University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland. University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany. Vanderbilt University School of Medicine Division of Epide

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Generalized Spatio Temporal Autoregressive Rainfall-Enso Pattern in East Java Indonesia 1

Generalized Spatio Temporal Autoregressive Rainfall-Enso Pat...

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1st Indonesian Association for Pattern Recognition International Conference, INAPR 2018

作者： Caraka, Rezzy Eko Ulhusna, Mishbah Darmawan Supatmanto, Budi Goldameir, Noor Ell Hutapea, Bonar Darmawan, Gumgum Novitasari, Dian Candra Rini Pardamean, Bens Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta 11480 Indonesia School of Mathematical Sciences National University of Malaysia Malaysia Department of Statistics Padjadjaran University Indonesia Modifikasi Cuaca - BPPT Balai Besar Teknologi Indonesia Faculty of Psychology Tarumanagara University Indonesia Department of Mathematics UIN Sunan Ampel Surabaya Indonesia Riau University Indonesia 'Yptk' Padang Universitas Putra Indonesia Indonesia Computer Science Department BINUS Graduate Program - Master of Computer Science Bina Nusantara University Jakarta11480 Indonesia

ISBN: (纸本)9781538694220

Monthly rainfall analysis and forecasts are made to be able to provide a clear picture of the rain and climate conditions that have occurred and will occur in the territory of Indonesia. The information can be known in an area that has the most substantial maximum rainfall and in an area which has the lowest rainfall described and presented spatial pattern by using the ArcView-GIS. The purpose of making monthly rainfall forecasts is to be used and utilized by users, especially in the agriculture and irrigation sectors to plan and make decisions within the next 1 to 3 months related to climatic conditions, especially rainfall. In this paper, we use annual rainfall data in six location East Java. We analysis ENSO phenomena as well as rainfall forecasting in January - March 2018 by using generalized space-time autoregressive and get an accuracy MAPE out samp;e amount 2.95% dan RMSE out sample amount 4.77. © 2018 IEEE.

关键词： Rain

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Maintaining the Quality and Aroma of Coffee with Fuzzy Logic Coffee Roasting Machine

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IOP Conference Series: Earth and Environmental Science 2020年第1期426卷

作者： Harsawardana Bayu Samodro Bharuno Mahesworo Teddy Suparyanto Don Bosco Surya Atmaja Bens Pardamean Artificial Intelligence Research and Innovation Center for Agroindustry (AIRICA) Institut Pertanian STIPER Yogyakarta Indonesia 55281 Mechatronics and AI Research & Development Center Biotechnic Innovation Yogyakarta Indonesia 55281 Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta Indonesia 11480 Computer Science Department BINUS Graduate Program - Master of Computer Science Bina Nusantara University Jakarta Indonesia 11480

With the increasing global demands of coffee, Indonesia need to increase their coffee beans supply and improve the quality to maintain its position in the international coffee industry. One of the most important coffeepre-processing, coffee bean roasting, is under developed in Indonesia. Indonesia coffee farmers prefer to use the traditional cauldron to roast their coffee beans. Roasting coffee beans using traditional cauldron is inefficient and resulting unequal roasted level for the coffee beans. In this study, we proposed atemperature control system based on fuzzy logic for coffee roaster machine. The system controls the temperature in accordance with the demanded roasting level. A thermal camera is attached inside the roasting chamber to monitor the heaton the roasted coffee beans. The thermal camera is integrated with a stirring mechanism to equalise the heat among the beans.

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Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (São Paulo, Brazil)

Research Square

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Research Square 2020年

作者： Naslavsky, Michel Scliar, Marilia Yamamoto, Guilherme Wang, Jaqueline Zverinova, Stepanka Karp, Tatiana Nunes, Kelly Ceroni, José Ricardo Carvalho, Diego Simões, Cerlos Eduardo Bozoklian, Daniel Nonaka, Ricardo Silva, Nayane Souza, Andreia Andrade, Heloísa Passos, Marília Castro, Camila Mendes-Junior, Celso Mercuri, Rafael Miller, Thiago Buzzo, José Rego, Fernanda Araújo, Nathalia Magalhaes, Wagner Mingroni-Netto, Regina Borda, Vctor Guio, Heinner Barreto, Maurício Lima-Costa, Maria Horta, Bernardo Tarazona-Santos, Eduardo Meyer, Diogo Galante, Pedro Castelli, Erick Duarte, Yeda Passos-Bueno, Maria Rita Zatz, Mayana Human Genome and Stem Cell Research Center University of São Paulo Department of Genetics and Evolutionary Biology Biosciences Institute University of São Paulo Brazil Universidade Federal de Minas Gerais Brazil University of Sao Paulo Brazil Human Genome and Stem Cell Research Center University of São Paulo Brazil Laboratory of Genome Structure and Ageing European Research Institute for the Biology of Ageing University Medical Center Groningen Netherlands Department of Genetics and Evolutionary Biology University of São Paulo Brazil Molecular Genetics and Bioinformatics Laboratory School of Medicine Sao Paulo State University Brazil Molecular Genetics and Bioinformatics Laboratory School of Medicine Sao Paulo State University Department of Pathology School of Medicine Sao Paulo State University Brazil Faculdade de Filosofia Ciências e Letras de Ribeirão Preto University of São Paulo Brazil Centro de Oncologia Molecular Hospital Sírio-Libanes Department of Biochemistry Institute of Chemistry University of São Paulo Bioinformatics Graduate program University of S Brazil Centro de Oncologia Molecular Hospital Sírio-Libanes Department of Biochemistry Institute of Chemistry University of São Paulo Brazil Centro de Oncologia Molecular Hospital Sírio-Libanes Bolivia Instituto Nacional de Salud Instituto de Saúde Coletiva Universidade Federal da Bahia Center for Data and Knowledge Integration for Health Institute Gonçalo Muniz Fundação Oswaldo Cruz Brazil Instituto de Pesquisas René Rachou Fundação Oswaldo Cruz Programa De Pós-Graduação em Saúde Pública Universidade Federal de Minas Gerais Brazil Universidade Federal de Pelotas Brazil Departamento de Genética Ecologia e Evolução Instituto de Ciências Biológicas Universidade Federal de Minas Gerais Universidad Peruana Cayetano Heredia Lima Peru Medical-Surgical Nursing Department School of Nursing University of São Paulo Epidemiology Department Public Health School University of São Paulo Brazil

As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly admixed elderly Brazilians from a census-based cohort, providing over 76 million variants, of which ~ 2 million are absent from large public databases. WGS enabled identifying ~ 2,000 novel mobile element insertions, nearly 5 Mb of genomic segments absent from human genome reference, and over 140 novel alleles from HLA genes. We reclassified and curated nearly four hundred variant's pathogenicity assertions in genes associated with dominantly inherited Mendelian disorders and calculated the incidence for selected recessive disorders, demonstrating the clinical usefulness of the present study. Finally, we observed that whole-genome and HLA imputation could be significantly improved compared to available datasets since rare variation represents the largest proportion of input from WGS. These results demonstrate that even smaller sample sizes of underrepresented populations bring relevant data for genomic studies, especially when exploring analyses allowed only by WGS. © 2020, CC BY.

关键词： Genome

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Author Correction: Type-2 Diabetics Reduces Spatial Variation of Microbiome Based on Extracellular Vesicles from Gut Microbes across Human Body

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Scientific reports 2020年第1期10卷 5368页

作者： Geumkyung Nah Sang-Cheol Park Kangjin Kim Sungmin Kim Jaehyun Park Sanghun Lee Sungho Won Interdisciplinary Program in Bioinformatics Seoul National University Seoul South Korea. Department of public health sciences Seoul National university Seoul South Korea. Inje University College of Medicine and Haeundae Paik Hospital Busan South Korea. Department of medical consilience Graduate school Dankook university Yongin-si South Korea. integrative@***. Interdisciplinary Program in Bioinformatics Seoul National University Seoul South Korea. won1@snu.ac.kr. Department of public health sciences Seoul National university Seoul South Korea. won1@snu.ac.kr. Institute of Health and Environment Seoul National University Seoul South Korea. won1@snu.ac.kr.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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