المؤلفون: Xinyuan Zhang, Anna O. Basile, Sarah A. Pendergrass, Marylyn D. Ritchie

المصدر: BMC Bioinformatics, Vol 20, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Rare variant association analysis, Sample size imbalance, Power analysis, Simulation study, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12859-018-2591-6Test; https://doaj.org/toc/1471-2105Test

الوصول الحر: https://doaj.org/article/8fd64d838a46401ca7e6cf4a3d830de4Test

المؤلفون: Molly A. Hall, John Wallace, Anastasia Lucas, Dokyoon Kim, Anna O. Basile, Shefali S. Verma, Cathy A. McCarty, Murray H. Brilliant, Peggy L. Peissig, Terrie E. Kitchner, Anurag Verma, Sarah A. Pendergrass, Scott M. Dudek, Jason H. Moore, Marylyn D. Ritchie

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/bb1e42b5fa3641f4b0265931ee4db643Test

المؤلفون: Dokyoon Kim, Anna O. Basile, Lisa Bang, Emrin Horgusluoglu, Seunggeun Lee, Marylyn D. Ritchie, Andrew J. Saykin, Kwangsik Nho

المصدر: BMC Medical Informatics and Decision Making, Vol 17, Iss S1, Pp 1-7 (2017)

مصطلحات موضوعية: Rare variant analysis, Imaging genomics, Alzheimer’s disease, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12911-017-0454-0Test; https://doaj.org/toc/1472-6947Test

الوصول الحر: https://doaj.org/article/e979fa9035364a26a160a7cf9082fef7Test

المؤلفون: Eduardo J, Pérez-Torres, Irina, Utkina-Sosunova, Vartika, Mishra, Peter, Barbuti, Mariangels, De Planell-Saguer, Georgia, Dermentzaki, Heather, Geiger, Anna O, Basile, Nicolas, Robine, Delphine, Fagegaltier, Kristin A, Politi, Paola, Rinchetti, Vernice, Jackson-Lewis, Matthew, Harms, Hemali, Phatnani, Francesco, Lotti, Serge, Przedborski

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(26)

مصطلحات موضوعية: Disease Models, Animal, Mice, Multidisciplinary, Superoxide Dismutase-1, Spinal Cord, Amyotrophic Lateral Sclerosis, Vesicular Transport Proteins, Animals, Humans, Mice, Transgenic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94cee62dbb0551e475875303d7da8644Test
https://pubmed.ncbi.nlm.nih.gov/35749364Test

المؤلفون: Marta Byrska-Bishop, Uday S. Evani, Xuefang Zhao, Anna O. Basile, Haley J. Abel, Allison A. Regier, André Corvelo, Wayne E. Clarke, Rajeeva Musunuri, Kshithija Nagulapalli, Susan Fairley, Alexi Runnels, Lara Winterkorn, Ernesto Lowy, null Paul Flicek, Soren Germer, Harrison Brand, Ira M. Hall, Michael E. Talkowski, Giuseppe Narzisi, Michael C. Zody, Evan E. Eichler, Jan O. Korbel, Charles Lee, Tobias Marschall, Scott E. Devine, William T. Harvey, Weichen Zhou, Ryan E. Mills, Tobias Rausch, Sushant Kumar, Can Alkan, Fereydoun Hormozdiari, Zechen Chong, Yu Chen, Xiaofei Yang, Jiadong Lin, Mark B. Gerstein, Ye Kai, Qihui Zhu, Feyza Yilmaz, Chunlin Xiao

المصدر: Cell. 185(18)

مصطلحات موضوعية: Male, INDEL Mutation, Whole Genome Sequencing, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Female, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::203e1fedd3913a2e0a4a55d902827ed0Test
https://pubmed.ncbi.nlm.nih.gov/36055197Test

المؤلفون: Anurag Verma, Anna O Basile, Yuki Bradford, Helena Kuivaniemi, Gerard Tromp, David Carey, Glenn S Gerhard, James E Crowe, Marylyn D Ritchie, Sarah A Pendergrass

المصدر: PLoS ONE, Vol 11, Iss 8, p e0160573 (2016)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC4980020?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/61a1ce4380b1483aa66ac22d5d0b454aTest

الإتاحة: https://doi.org/10.1371/journal.pone.0160573Test
https://doaj.org/article/61a1ce4380b1483aa66ac22d5d0b454aTest

المؤلفون: Anna O. Basile, Robert J. Carroll, Ky’Era Actkins, Joshua C. Denny, Ian B. Stanaway, Bahram Namjou, Rex L. Chisholm, Yoonjung Yoonie Joo, Kevin Ho, Maureen E. Smith, Jennifer A. Pacheco, Cindy Meun, Tugce Karderi, Margrit Urbanek, Gail P. Jarvik, David R. Crosslin, John B. Harley, Frank D. Mentch, Matthew Jones, Sarah A. Pendergrass, M. Geoffrey Hayes, Abel N. Kho, Felix R. Day, Lea K. Davis, Hakon Hakonarson, Digna R. Velez Edwards, Scott J. Hebbring, Theresa L. Walunas, Marylyn D. Ritchie

المساهمون: Obstetrics & Gynecology, Internal Medicine

المصدر: J Clin Endocrinol Metab
The Journal of clinical endocrinology and metabolism, 105(6), 1918-1936. Endocrine Society

مصطلحات موضوعية: 0301 basic medicine, Multifactorial Inheritance, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Type 2 diabetes, Bioinformatics, Biochemistry, 0302 clinical medicine, Endocrinology, Risk Factors, Electronic Health Records, Phenomics, Child, 0303 health sciences, Framingham Risk Score, Sleep apnea, Middle Aged, Prognosis, Polycystic ovary, 3. Good health, Phenotype, Female, Algorithms, Polycystic Ovary Syndrome, medicine.medical_specialty, Adolescent, 030209 endocrinology & metabolism, Context (language use), Phenome, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Diabetes mellitus, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Clinical Research Articles, 030304 developmental biology, Aged, Genetic association, business.industry, Biochemistry (medical), medicine.disease, Comorbidity, Obesity, 030104 developmental biology, Case-Control Studies, business, Follow-Up Studies, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f404b526c20f81fe1437d5d2146c17Test
https://doi.org/10.1210/clinem/dgz326Test

المؤلفون: Anurag Verma, Brittney Destin, Gunaretnam Rajagopal, Julia Wattacheril, Ava Farrell, Abraham Krikhely, Leigh Anne Tang, Muredach P. Reilly, Rotonya M. Carr, Andrew Scanga, Marc Bessler, Nicholas P. Tatonetti, Anuli Anyanwu-Ofili, Marylyn D. Ritchie, Anna O. Basile, Marina Serper, Joshua C. Denny

مصطلحات موضوعية: education.field_of_study, medicine.medical_specialty, business.industry, Population, Psychological intervention, Context (language use), medicine.disease, Chronic liver disease, Liver disease, Nonalcoholic fatty liver disease, medicine, Observational study, Diagnosis code, education, business, Intensive care medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b3c47a5e86c63d87fb7f409a955d8b44Test
https://doi.org/10.1101/2021.04.27.21256139Test

المؤلفون: Haley J. Abel, Runnels A, Harrison Brand, Anna O. Basile, Marta Byrska-Bishop, Xuefang Zhao, Lara Winterkorn, Susan Fairley, Paul Flicek, Uday S. Evani, Ernesto Lowy-Gallego, Ira M. Hall, Michael C. Zody, Rajeeva Musunuri, Wayne E. Clarke, Michael E. Talkowski, Giuseppe Narzisi, Kshithija Nagulapalli, Soren Germer, André Corvelo, Allison A. Regier

مصطلحات موضوعية: Whole genome sequencing, Cohort, Computational biology, 1000 Genomes Project, Biology, High coverage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::57ab097be4c8fe566182eba98d432668Test
https://doi.org/10.1101/2021.02.06.430068Test

المؤلفون: Zepeng Mu, Jana Ebler, PingHsun Hsieh, Kai Ye, Marta Byrska-Bishop, William T. Harvey, Mark Gerstein, Chong Li, Bernardo Rodriguez-Martin, Tobias Rausch, Michael E. Talkowski, Rebecca Serra Mari, Allison Regier, Xinghua Shi, Arvis Sulovari, Weichen Zhou, Martin Santamarina, Hufsah Ashraf, Oliver Stegle, Scott E. Devine, Yu Chen, Xuefang Zhao, Jiadong Lin, Susan Fairley, Mark Chaisson, Wolfram Höps, Alexandra P. Lewis, Ira M. Hall, Benjamin Raeder, Feyza Yilmaz, Wayne E. Clarke, Aaron M. Wenger, Qihui Zhu, Xiaofei Yang, Ashley D. Sanders, Marc Jan Bonder, Junjie Chen, Maryam Ghareghani, Katherine M. Munson, Luke J. Tallon, Evan E. Eichler, Alex Hastie, Paul Flicek, Jose M. C. Tubio, Jan O. Korbel, Peter A. Audano, Jingwen Ren, Peter Ebert, Tobias Marschall, Nelson T. Chuang, David Porubsky, Anna O. Basile, Joyce V. Lee, Yang I. Li, Harrison Brand, André Corvelo, Michael C. Zody, Patrick Hasenfeld, Ryan E. Mills, Charles Lee, Zechen Chong, Haley J. Abel, Sushant Kumar

مصطلحات موضوعية: Structural variation, education.field_of_study, Contig, Population, Haplotype, Expression quantitative trait loci, Sequence assembly, Human genome, Computational biology, Biology, education, Genotyping

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dc0b557d21456d6ebdcdea2f2663403fTest
https://doi.org/10.1101/2020.12.16.423102Test