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1دورية أكاديمية
المؤلفون: Mohamed Hassan Abdelraheem, Sonia Goncalves, Lemu Golassa, Tim Anderson, Desmond Omane Acheampong, Enoch Aninagyei, Ifeyinwa Aniebo, Patrick O Ansah, Felix Ansah, Gordon A Awandare, Paulo Arnaldo, Maciej F Boni, Gwladys I Bertin, Peter C Bull, Marielle Bouyou-Akotet, Keobouphaphone Chindavongsa, Edwin Kamau, Huch Cheah, Claire Kamaliddin, Vladimir Corredor, David J Conway, Nicholas Day, Abibatou Konaté, Erin Courtier, Theerarat Kochakarn, Arjen Dondorp, Abdoulaye Djimde, Diego F Echeverry, Seydou Doumbia, Mara Lawniczak, Pharath Lim, Sonia Maria Mauricio Enosse, Oumou Maïga-Ascofaré, Thomas G Egwang, Aung Myint Thu, Mark Fleharty, Jutta Marfurt, Caterina A Fanello, Mark Fukuda, Victor Mobegi, Matthew Forbes, Sara Anne Healy, G L Abby Harrison, Anastasia Hernandez-Koutoucheva, Jason A Hendry, Ivo Mueller, Francis Hombhanje, Harald Noedl, Catherine A Hill, Thuy-Nhien Nguyen, Mazza Hussein, Amanda Hott, Rintis Noviyanti, Scott A Jackson, Abraham Oduro, Deus Ishengoma, Harold Ocholla, Julia Jeans, Jean-Bosco Ouedraogo, Chris G Jacob, Drissa S Konate, Jon Keatley, Francois Nosten, Kolapo Oyebola, Myat P Kyaw, Aminatou Kone, Norbert Peshu, Samuel K Lee, Dennis Kyle, Kovana M Loua, Milijaona Randrianarivelojosia, Martha Lemnge, Sasithon Pukrittayakamee, Richard James Maude, Pascal Ringwald, Celine I Mandara, Abdelrahim Osman Mohamed, Toshihiro Mita, Jaqui Montgomery, Julian C Rayner, David Saunders, Olugbenga A Mokuolu, Lastenia Ruiz, Kathryn Murie, Peter Siba, Collins Misita Morang’a, Alex Shayo, Tuyen Nguyen Thi Kim, Thang Ngo Duc, Vincent Ntui-Njock Ntui, Colin Sutherland, Hong Nguyen Van, Xin-zhuan Su, Marie A Onyamboko, Livingstone Tavul, Irene Omedo, Richard Pearson, Antoinette Tshefu, Wellington Aghoghovwia Oyibo, Vandana Thathy, Chris Drakeley, Huynh Hong Quang, Joseph Vinetz, Christopher V Plowe, Federica Verra, Eduard Rovira-Vallbona, Jason Wendler, Anna Rosanas-Urgell, Teun Bousema, Thuy Nguyen, Mahamadou S. Sissoko, Valentin Ruano-Rubio, Alexis Nzila, Shannon Takala-Harrison, Christen Smith, William Yavo, Ngo Viet Thanh, Arthur Talman, Georgia Whitton, Mahamoudou Toure, Rob W van der Pluijm, Sarah Auburn, Antoine Claessens, Mahamadou Diakite, Kesinee Chotivanich, Mehul Dhorda, Olivo Miotto, Mallika Imwong, Mayfong Mayxay, Alfred Amambua-Ngwa, Philip Bejon, Elizabeth Ashley, Alyssa Barry, Rick M. Fairhurst, Ye Htut, Tran Tinh Hien, Kimberly J Johnson, Dominic P Kwiatkowski, Umberto D'Alessandro, Chanthap Lon, Paul N Newton, Aung P Phyo, Ric N Price, Victoria J Simpson, Kevin Marsh, Nicholas J White, Thomas E Wellems, Lynette Isabella Ochola-Oyier, Mozam Ali, Ambroise Ahouidi, Jacob Almagro-Garcia, Ben Andagalu, Lucas Amenga-Etego, Voahangy Andrianaranjaka, Tobias Apinjoh, Vito Baraka, Hampate Ba, Steffen Borrmann, Oralee Branch, Thanat Chookajorn, Souleymane Dama, Chanaki Amaratunga, Alister Craig, Brigitte Denis, Eleanor Drury, Christiane Dolecek, Patrick Duffy, Berhanu Erko, Abdul Faiz, Muzamil Mahdi Abdel Hamid, Anita Ghansah, Dionicia Gamboa
المصدر: Wellcome Open Research, Vol 8 (2023)
مصطلحات موضوعية: malaria, plasmodium falciparum, genomics, data resource, genomic epidemiology, eng, Medicine, Science
وصف الملف: electronic resource
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المؤلفون: Anne H. O’Donnell-Luria, Monkol Lek, James S. Ware, Kristen M. Laricchia, Benjamin M. Neale, Stacey Donnelly, Irina M. Armean, Jack A. Kosmicki, Stacey Gabriel, Christopher Vittal, David Roazen, Daniel R. Rhodes, Charlotte Tolonen, Matthew Solomonson, Laura D. Gauthier, Qingbo Wang, Andrea Ganna, Raymond K. Walters, Konrad J. Karczewski, Steven Ferriera, Thibault Jeandet, Jessica Alföldi, Mark J. Daly, Kristen M. Connolly, Kristian Cibulskis, Sam Novod, Timothy Poterba, Jeff Gentry, Yossi Farjoun, Moriel Singer-Berk, Diane Kaplan, Harrison Brand, Cotton Seed, Kaitlin E. Samocha, Michael E. Talkowski, Laurent C. Francioli, Molly Schleicher, Miguel Covarrubias, Jessica X. Chong, Christopher Llanwarne, Kathleen Tibbetts, Andrea Saltzman, Beryl B. Cummings, Grace Tiao, Sanna Gudmundsson, Nikelle Petrillo, Nicholas A. Watts, Jose Soto, Arcturus Wang, Daniel G. MacArthur, Valentin Ruano-Rubio, Eric Banks, Daniel P. Birnbaum, Eleanor G. Seaby, Ruchi Munshi, Gordon Wade, Nicola Whiffin, Louis Bergelson, Namrata Gupta, Eleina M. England, Katherine Tashman, Ryan L. Collins, Zachary Zappala, Emma Pierce-Hoffman, Eric Vallabh Minikel, Ben Weisburd
المصدر: Nature
مصطلحات موضوعية: Adult, Male, Biology, Cohort Studies, Mutation Rate, Loss of Function Mutation, Databases, Genetic, Exome Sequencing, Humans, Exome, Genetic Predisposition to Disease, RNA, Messenger, Genes, Essential, Multidisciplinary, Whole Genome Sequencing, Genome, Human, Spectrum (functional analysis), Brain, Genetic Variation, Reproducibility of Results, Addendum, Rare variants, Constraint (information theory), Variation (linguistics), Cardiovascular Diseases, Female, Proprotein Convertase 9, Medical genomics, Algorithm, Genome-Wide Association Study
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4282a8c49253b8d2aa58f13df5b003ff
https://eprints.soton.ac.uk/468341/ -
4دورية أكاديمية
المؤلفون: Sarah Auburn, Jutta Marfurt, Gareth Maslen, Susana Campino, Valentin Ruano Rubio, Magnus Manske, Barbara Machunter, Enny Kenangalem, Rintis Noviyanti, Leily Trianty, Boni Sebayang, Grennady Wirjanata, Kanlaya Sriprawat, Daniel Alcock, Bronwyn Macinnis, Olivo Miotto, Taane G Clark, Bruce Russell, Nicholas M Anstey, François Nosten, Dominic P Kwiatkowski, Ric N Price
المصدر: PLoS ONE, Vol 8, Iss 1, p e53160 (2013)
وصف الملف: electronic resource
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المؤلفون: Harold Z. Wang, Yii-Der Ida Chen, Elise Valkanas, Michael E. Talkowski, Kent D. Taylor, Xuefang Zhao, Henry J. Lin, Konrad J. Karczewski, Ryan L. Collins, Eric Banks, Benjamin M. Neale, Lauren Margolin, Christopher W. Whelan, Valentin Ruano-Rubio, Laura D. Gauthier, Stacey Gabriel, Harrison Brand, Namrata Gupta, Jessica Alföldi, Ruchi Munshi, Yongqing Huang, Daniel G. MacArthur, Laurent C. Francioli, Chad Nusbaum, Eric S. Lander, Mark J. Daly, Nicholas A. Watts, Anthony A. Philippakis, Matthew Solomonson, Sekar Kathiresan, Genome Aggregation Database Production Team, Wendy S. Post, Jack Fu, Alexander Baumann, Kristen M. Laricchia, Amit Khera, Ted Brookings, Anne H. O’Donnell-Luria, Jerome I. Rotter, Matthew R. Stone, Chelsea Lowther, Christine Stevens, Caroline N. Cusick, Ted Sharpe, Grace Tiao, Stephen S. Rich, Mark Walker
المساهمون: Tampere University, Clinical Medicine, Department of Clinical Chemistry, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Department of Medicine, Clinicum, Gastroenterologian yksikkö, Institute for Molecular Medicine Finland, HUS Psychiatry, Department of Psychiatry, Department of Public Health, Helsinki Institute of Life Science HiLIFE, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki, Biosciences, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö
المصدر: Nature, vol 581, iss 7809
Natureمصطلحات موضوعية: 0301 basic medicine, Male, Genotyping Techniques, IMPACT, Population genetics, VARIANTS, Genome informatics, Genome, 0302 clinical medicine, Disease, Copy-number variation, education.field_of_study, Multidisciplinary, Continental Population Groups, REARRANGEMENTS, 1184 Genetics, developmental biology, physiology, Genome Aggregation Database Production Team, Genomics, Single Nucleotide, Reference Standards, Middle Aged, 3. Good health, GENOME, Female, Biotechnology, Human, General Science & Technology, Population, Computational biology, Biology, Article, Structural variation, 03 medical and health sciences, Genetic, Medical, Genetics, Humans, Genetic Testing, Polymorphism, education, Selection, COPY NUMBER VARIATION, Whole genome sequencing, Whole Genome Sequencing, DELETION, Racial Groups, Human Genome, Genetic Variation, Chromosome abnormality, EVOLUTION, Human genetics, 030104 developmental biology, Genome Aggregation Database Consortium, Mutation, PATTERNS, Generic health relevance, 3111 Biomedicine, 030217 neurology & neurosurgery
وصف الملف: application/pdf; fulltext
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5850f851436ab9954eeebae9e54903b
https://escholarship.org/uc/item/25h6t9dp -
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المؤلفون: Zachary Zappala, Cotton Seed, Namrata Gupta, Kristen M. Laricchia, Daniel G. MacArthur, Nicholas A. Watts, Raymond K. Walters, Mark J. Daly, Yossi Farjoun, Andrea Ganna, Beryl B. Cummings, Ruchi Munshi, Grace Tiao, Laurent C. Francioli, Arcturus Wang, Valentin Ruano-Rubio, Eric Banks, Jessica X. Chong, Gordon Wade, Kathleen Tibbetts, Thibault Jeandet, Emma Pierce-Hoffman, Andrea Saltzman, Nicola Whiffin, Laura D. Gauthier, Ryan L. Collins, Eric Vallabh Minikel, Matthew Solomonson, Harrison Brand, Stacey Donnelly, Kaitlin E. Samocha, Qingbo Wang, Katherine Tashman, Diane Kaplan, Ben Weisburd, Christopher Vittal, Louis Bergelson, Charlotte Tolonen, Jessica Alföldi, Michael E. Talkowski, Stacey Gabriel, Kristian Cibulskis, Daniel P. Birnbaum, Steven Ferriera, Sam Novod, Kristen M. Connolly, Jeff Gentry, Christopher Llanwarne, Nikelle Petrillo, Eleanor G. Seaby, Benjamin M. Neale, Irina M. Armean, Jack A. Kosmicki, Timothy Poterba, David Roazen, Jose Soto, Molly Schleicher, Miguel Covarrubias, Konrad J. Karczewski, Daniel R. Rhodes, Monkol Lek, Moriel Singer-Berk, James S. Ware, Anne H. O’Donnell-Luria
مصطلحات موضوعية: 0303 health sciences, Mutation, ved/biology, ved/biology.organism_classification_rank.species, Computational biology, Biology, medicine.disease_cause, Phenotype, Genome, 03 medical and health sciences, 0302 clinical medicine, medicine, Model organism, Gene, 030217 neurology & neurosurgery, Exome sequencing, Function (biology), Loss function, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::546728f8451823a7b9c49a3bd20644a1
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المؤلفون: Anne H. O’Donnell-Luria, Chelsea Lowther, Christine Stevens, Elise Valkanas, Matthew R. Stone, Anthony A. Philippakis, Matthew Solomonson, Mark Walker, Yongqing Huang, Jack Fu, Jerome I. Rotter, Laurent C. Francioli, Wendy S. Post, Yii-Der Ida Chen, Kristen M. Laricchia, Amit Khera, Eric S. Lander, Kent D. Taylor, Mark J. Daly, Xuefang Zhao, Lauren Margolin, Ryan L. Collins, Henry J. Lin, Konrad J. Karczewski, Laura D. Gauthier, Ted Brookings, Jessica Alföldi, Benjamin M. Neale, Harrison Brand, Caroline N. Cusick, Eric Banks, Nicholas A. Watts, Stacey Gabriel, Harold Z. Wang, Valentin Ruano-Rubio, Michael E. Talkowski, Ruchi Munshi, Stephen S. Rich, Genome Aggregation Database Production Team, Sekar Kathiresan, Christopher W. Whelan, Daniel G. MacArthur, Namrata Gupta, Chad Nusbaum, Ted Sharpe, Grace Tiao, Alexander Baumann
المصدر: Nature
مصطلحات موضوعية: Male, Genotyping Techniques, Genetics, Medical, MEDLINE, Population genetics, Computational biology, Biology, Genome informatics, Polymorphism, Single Nucleotide, Structural variation, Humans, Disease, Genetic Testing, Selection, Genetic, Author Correction, Multidisciplinary, Whole Genome Sequencing, Genome, Human, Published Erratum, Racial Groups, Genetic Variation, Chromosome abnormality, Genomics, Middle Aged, Reference Standards, Genetics, Population, Mutation, Female
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المؤلفون: Simon Hillson, Valentin Ruano Rubio, Adeline Le Cabec, Nancy Tang
المساهمون: Department of Human Evolution [Leipzig], Max Planck Institute for Evolutionary Anthropology [Leipzig], Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, European Synchrotron Radiation Facility (ESRF), Data Science Data Engineering, Broad Institute, Institute of Archaeology, University College London, London, UK
المصدر: American Journal of Physical Anthropology
American Journal of Physical Anthropology, Wiley, 2019, 168 (1), pp.25-44. ⟨10.1002/ajpa.23702⟩مصطلحات موضوعية: 0106 biological sciences, Adult, Male, Cuspid, X-ray microtomography, [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Population, Pilot Projects, Biology, [SDV.BID.SPT]Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy, 010603 evolutionary biology, 01 natural sciences, Adult age, Anthropology, Physical, Young Adult, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, medicine, Assemblage (archaeology), Humans, 0601 history and archaeology, Cementum, Life history, education, Aged, Orthodontics, Estimation, Aged, 80 and over, Dental Cementum, education.field_of_study, 060101 anthropology, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], 06 humanities and the arts, X-Ray Microtomography, Middle Aged, Unknown age, virtual histology, medicine.anatomical_structure, adult age at death, Anthropology, Female, Anatomy, Age Determination by Teeth, propagation phase contrast, cementochronology, Synchrotrons
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المؤلفون: Jack A. Kosmicki, Mark A. DePristo, Mark I. McCarthy, Patrick F. Sullivan, Laramie E. Duncan, Ryan Poplin, David Neil Cooper, Mitja I. Kurki, Aarno Palotie, Hong-Hee Won, Dermot P.B. McGovern, John Danesh, Jose C. Florez, Grace Tiao, Anne H. O’Donnell-Luria, Timothy Fennell, Gad Getz, Douglas M. Ruderfer, Joanne Berghout, Mark J. Daly, Monkol Lek, Daniel P. Howrigan, Stacey Gabriel, Daniel P. Birnbaum, Ami Levy Moonshine, Michael Boehnke, Ben Weisburd, Ruth McPherson, Christine Stevens, Dongmei Yu, Sekar Kathiresan, Andrew J. Hill, James G. Wilson, James S. Ware, Hugh Watkins, Benjamin M. Neale, Khalid Shakir, David Altshuler, María Teresa Tusié-Luna, Lorena Orozco, James Zou, Samuel A. Rose, Menachem Fromer, Jeremiah M. Scharf, Daniel G. MacArthur, Namrata Gupta, Pamela Sklar, Eric Vallabh Minikel, Steven A. McCarroll, Jaakko Tuomilehto, Jackie Goldstein, Ming T. Tsuang, Stacey Donnelly, Konrad J. Karczewski, Fengmei Zhao, Stephen J. Glatt, Ron Do, Nicole A. Deflaux, Adam Kiezun, Emma Pierce-Hoffman, Markku Laakso, Beryl B. Cummings, Pradeep Natarajan, Danish Saleheen, Karol Estrada, Peter D. Stenson, Manuel A. Rivas, Diego Ardissino, Kaitlin E. Samocha, Gina M. Peloso, Laura D. Gauthier, Eric Banks, Brett Thomas, Shaun Purcell, Taru Tukiainen, Valentin Ruano-Rubio, Christina M. Hultman, Jason Flannick, Roberto Elosua
المساهمون: Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Institute for Molecular Medicine Finland, Aarno Palotie / Principal Investigator, Jaakko Tuomilehto Research Group, Department of Public Health, Clinicum, Genomics of Neurological and Neuropsychiatric Disorders, Danesh, John [0000-0003-1158-6791], Apollo - University of Cambridge Repository, Wellcome Trust, The Academy of Medical Sciences
المصدر: Lek, M, Karczewski, K J, Minikel, E V, Samocha, K E, Posthuma, D & Exome Aggregation Consortium, U 2016, ' Analysis of protein-coding genetic variation in 60,706 humans ', Nature, vol. 536, no. 7616, pp. 285-291 . https://doi.org/10.1038/nature19057
Nature, 536(7616), 285-291. Nature Publishing Group
Nature, vol 536, iss 7616مصطلحات موضوعية: 0301 basic medicine, Proteome, DNA Mutational Analysis, Datasets as Topic, Human genetic variation, GUIDELINES, 0302 clinical medicine, Exome Aggregation Consortium, SEQUENCE VARIANTS, Coding region, 2.1 Biological and endogenous factors, Exome, Aetiology, MUTATION, Genetics, 0303 health sciences, Multidisciplinary, HUMAN-DISEASE, NETWORKS, Multidisciplinary Sciences, Phenotype, Mutation (genetic algorithm), Science & Technology - Other Topics, Biotechnology, General Science & Technology, Genomics, Computational biology, Biology, DNA sequencing, 03 medical and health sciences, Rare Diseases, Clinical Research, Genetic variation, Humans, Genetic Testing, Gene, 030304 developmental biology, Science & Technology, Human Genome, HUMAN-POPULATION HISTORY, Genetic Variation, FRAMEWORK, R1, EVOLUTION, 030104 developmental biology, DISCOVERY, Sample Size, Generic health relevance, 3111 Biomedicine, Genètica humana -- Variació, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Zamin Iqbal, Michel Theron, Paul Vauterin, Kelda Gould, Susana Campino, Julian C. Rayner, Eleanor Drury, Daniel Mead, Upeka Samarakoon, Bronwyn MacInnis, Karen Hayton, Xin-zhuan Su, Michael T. Ferdig, Lisa C. Ranford-Cartwright, Thomas E. Wellems, Alistair Miles, Jonathan M. Mwangi, Gil McVean, Richard D. Pearson, Dominic P. Kwiatkowski, Valentin Ruano Rubio, John O'Brien
مصطلحات موضوعية: Genetics, 0303 health sciences, Genomics, Single-nucleotide polymorphism, Biology, Genome, Deep sequencing, 3. Good health, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genotype, Mendelian inheritance, symbols, Copy-number variation, Indel, 030217 neurology & neurosurgery, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41f52007a8cb4f36336f0d6da2e911ff
https://doi.org/10.1101/024182