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المؤلفون: Ruth Loos, Qingbo Wang, Anne O'Donnell-Luria, Benjamin Glaser, James Ware, John D. Rioux, ROBERTO ELOSUA, Kristian Cibulskis, Laurent Francioli, E Shyong Tai, Terho Lehtimäki, Daniel MacArthur, Irina Armean, Matthew Bown, Tiinamaija Tuomi, Jeanette Erdmann, Matthew Solomonson, Harry Sokol, Aarno Palotie, Martti Färkkilä, Ronald Ma, Olle Melander, Emilia Solinas
المساهمون: Tampere University, Clinical Medicine, Department of Clinical Chemistry, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Department of Medicine, Clinicum, Gastroenterologian yksikkö, Helsinki University Hospital Area, Research Programs Unit, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki, Biosciences, Rosetrees Trust
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
2020, ' Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes ', Nature Communications, vol. 11, no. 1, 2539 . https://doi.org/10.1038/s41467-019-12438-5Test
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Mutation rate, Science, Nonsense mutation, General Physics and Astronomy, Computational biology, Genome, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Protein sequencing, 0302 clinical medicine, DNA Mutational Analysis, Genetic variation, ELEMENTS, lcsh:Science, Exome, SIGNATURES, Exome sequencing, Polymerase, 030304 developmental biology, 0303 health sciences, Multidisciplinary, biology, Haplotype, 1184 Genetics, developmental biology, physiology, Genome Aggregation Database Production Team, Genomics, General Chemistry, FRAMEWORK, EVOLUTION, SLIPPAGE, 030104 developmental biology, Haplotypes, CpG site, DE-NOVO MUTATIONS, Genome Aggregation Database Consortium, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), WHOLE-GENOME, PATTERNS, biology.protein, DNA-POLYMERASE-ZETA, REPEATS, lcsh:Q, 3111 Biomedicine, 030217 neurology & neurosurgery
وصف الملف: fulltext; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6888bcf12b71f1b1b238d4a8d4e562d2Test
https://doaj.org/article/053a200a4cea4fb997d382b7e041c377Test -
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المؤلفون: Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler
المساهمون: Institute for Molecular Medicine Finland, Clinicum, Centre of Excellence in Complex Disease Genetics, Leif Groop Research Group, HUS Abdominal Center, University of Helsinki, Department of Medicine, Tiinamaija Tuomi Research Group, Department of Public Health, NIH - National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (Estados Unidos), NIH - National Institute of Child Health and Human Development (NICHD) (Estados Unidos), American Diabetes Association
المصدر: Nature Communications
Goodrich, J K, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, J B, Weisburd, B, Watts, N, Caulkins, L, Dornbos, P, Koesterer, R, Zappala, Z, Zhang, H, Maloney, K A, Dahl, A, Aguilar-Salinas, C A, Atzmon, G, Barajas-Olmos, F, Barzilai, N, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Centeno-Cruz, F, Chambers, J C, Chami, N, Chan, E, Chan, J, Cheng, C Y, Cho, Y S, Contreras-Cubas, C, Córdova, E, Correa, A, DeFronzo, R A, Duggirala, R, Dupuis, J, Garay-Sevilla, M E, García-Ortiz, H, Gieger, C, Glaser, B, González-Villalpando, C, Gonzalez, M E, Grarup, N, Groop, L, Gross, M, Hansen, T, Linneberg, A, Pedersen, O & AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, 3505 . https://doi.org/10.1038/s41467-021-23556-4Test
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Goodrich, J K, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, J B, Weisburd, B, Watts, N, Caulkins, L, Dornbos, P, Koesterer, R, Zappala, Z, Zhang, H, Maloney, K A, Dahl, A, Aguilar-Salinas, C A, Atzmon, G, Barajas-Olmos, F, Barzilai, N, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Centeno-Cruz, F, Chambers, J C, Chami, N, Chan, E, Chan, J, Cheng, C Y, Cho, Y S, Contreras-Cubas, C, Córdova, E, Correa, A, DeFronzo, R A, Duggirala, R, Dupuis, J, Garay-Sevilla, M E, García-Ortiz, H, Gieger, C, Glaser, B, González-Villalpando, C, Gonzalez, M E, Grarup, N, Groop, L, Gross, M, Haiman, C A, Han, S, Hanis, C L, Hansen, T, Heard-Costa, N L, Jørgensen, M E, Pedersen, O, Witte, D R & AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, 3505 . https://doi.org/10.1038/s41467-021-23556-4Test
AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, no. 1, 3505 . https://doi.org/10.1038/s41467-021-23556-4Testمصطلحات موضوعية: 0301 basic medicine, Multifactorial Inheritance, LD SCORE REGRESSION, General Physics and Astronomy, MEDICAL GENETICS, Penetrance, Disease, DISEASE, 0302 clinical medicine, Genotype, Exome, Exome sequencing, Genetics, RISK, Multidisciplinary, Molecular medicine, Endocrine system and metabolic diseases, ASSOCIATION, RARE VARIANTS, LOW-FREQUENCY, Medical genomics, Adult, Science, Biology, AMERICAN-COLLEGE, Risk Assessment, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Diabetes mellitus, medicine, Humans, Genetic Predisposition to Disease, CLINICAL EXOME, Monogenic Diabetes, Dyslipidemias, MUTATIONS, Genetic variants, General Chemistry, medicine.disease, Biomarker (cell), 030104 developmental biology, Biological Variation, Population, Diabetes Mellitus, Type 2, 3121 General medicine, internal medicine and other clinical medicine, 030217 neurology & neurosurgery, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb45722a2bf7d68da17f9e595c88127cTest
http://europepmc.org/articles/PMC8190084Test -
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المؤلفون: Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell-Luria
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: 0301 basic medicine, rare disease, Genomics, Computational biology, Review, Biology, QH426-470, Mendelian, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetic etiology, Genetics, genomics, Gene, Genetics (clinical), novel gene discovery, Constraint (information theory), Data sharing, 030104 developmental biology, Mendelian inheritance, symbols, Molecular Medicine, disease–gene relationships, 030217 neurology & neurosurgery, Gene Discovery, rare genetic disorders, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::825eff4ade9a09454269fbb8a6c86670Test
https://pubmed.ncbi.nlm.nih.gov/34220947Test