المؤلفون: Josh C. Denny, Yong Chen, Ruowang Li, Xinyuan Zhang, Patrick M. A. Sleiman, Rui Duan, Thomas Lumley, Marylyn D. Ritchie, David Carrell, Christopher R. Bauer, Jason H. Moore, Wei-Qi Wei, Jonathan D. Mosley, Georgia L. Wiesner, Robert J. Carroll, Hakon Hakonarson, Digna R. Velez Edwards, Jordan W. Smoller, Sarah A. Pendergrass

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Databases, Factual, Statistical methods, Computer science, Science, General Physics and Astronomy, Health records, Models, Biological, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Genetic Pleiotropy, Electronic Health Records, Humans, Generalizability theory, Statistical hypothesis testing, Lossless compression, Multidisciplinary, Communication, Genetic data, General Chemistry, Data science, Summary statistics, Phenotype, 030104 developmental biology, Pleiotropy (drugs), Privacy, Data integration, 030217 neurology & neurosurgery, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f29830d863f88144ed6590b83466d23bTest
https://doaj.org/article/f563b6a1c3d34087b48dd7004f4f0993Test

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: Bertram Müller-Myhsok, John B. Harley, Patrick M. A. Sleiman, Anastasia Lucas, Murray H. Brilliant, Beibei Jiang, Jiayan Zhou, Molly A. Hall, John M. Wallace, Jason H. Moore, John McGuigan, Shefali S. Verma, Yuki Bradford, Hakon Hakonarson, Kristel Van Steen, Yanfei Zhang, Krzysztof Kiryluk, Sarah A. Pendergrass, Kristin Passero, Marylyn D. Ritchie, Peggy L. Peissig

المصدر: PLoS Genetics, Vol 17, Iss 6, p e1009534 (2021)
PLoS Genetics

مصطلحات موضوعية: Cancer Research, Heredity, Eye Diseases, Single Nucleotide Polymorphisms, Datasets as Topic, Genome-wide association study, SUSCEPTIBILITY, QH426-470, DISEASE, Homozygosity, Macular Degeneration, 0302 clinical medicine, Medical Conditions, Gene Frequency, Medicine and Health Sciences, Genetics (clinical), Genetics & Heredity, 0303 health sciences, Heterozygosity, Genomics, BREAST-CANCER RISK, Genetic Mapping, ISCHEMIC-STROKE, Phenotype, Hypertension, symbols, Life Sciences & Biomedicine, Research Article, Single-nucleotide polymorphism, Variant Genotypes, Computational biology, Biology, Polymorphism, Single Nucleotide, Cataract, 03 medical and health sciences, symbols.namesake, Genetic model, LOCUS, Genome-Wide Association Studies, Genetics, Humans, Allele, GENOME-WIDE ASSOCIATION, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Alleles, 030304 developmental biology, TOOLS, Science & Technology, EMERGE NETWORK, Models, Genetic, Cataracts, ELECTRONIC MEDICAL-RECORDS, Biology and Life Sciences, Computational Biology, Human Genetics, Glaucoma, Genome Analysis, POLYMORPHISM, Minor allele frequency, Ophthalmology, Bonferroni correction, Diabetes Mellitus, Type 2, Genetic Loci, Lens Disorders, Multiple comparisons problem, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2417c0b12ab33679e6e18047153250dcTest
https://doaj.org/article/b37fdfc15813491fa1c98bc3372f6d22Test

المؤلفون: David J. Carey, Yanfei Zhang, Lisa Bang, Marta Byrska-Bishop, Ming Ta Michael Lee, Anurag Verma, Yu Zhang, Sarah A. Pendergrass, Marylyn D. Ritchie, Dokyoon Kim, Jason E. Miller

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Epigenomics, Single-nucleotide polymorphism, Computational biology, Disease, Biology, Polymorphism, Single Nucleotide, Article, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Pleiotropy, Genetic variation, Genetics, Electronic Health Records, Humans, DiscovEHR study, Genetics (clinical), Genetic Association Studies, Genetic association, PheWAS, electronic health record, Biobank, Genetic architecture, 030104 developmental biology, Phenotype, Cardiovascular Diseases, 030220 oncology & carcinogenesis, human disease network, Diagnosis code, EHR-based population study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24380b6f02bf466199da0c8e95637057Test
http://europepmc.org/articles/PMC6323551Test

المؤلفون: Ky’Era Actkins, Kevin Ho, Gail P. Jarvik, Brody Holohan, Felix R. Day, Navya Shilpa Josyula, Yanfei Zhang, Hakon Hakonarson, Sarah A. Pendergrass, Digna R. Velez Edwards, Ming Ta Michael Lee, Jacob M. Keaton, Dustin N. Hartzel, David R. Crosslin, Patrick M. A. Sleiman, Lea K. Davis, Marc S. Williams, Anne E. Justice, Andrea H. Ramirez, Ian B. Stanaway

مصطلحات موضوعية: Adult, Infertility, Oncology, medicine.medical_specialty, Receptor, ErbB-4, Population, Single-nucleotide polymorphism, Genome-wide association study, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Electronic Health Records, Humans, 030212 general & internal medicine, education, ERBB4, Adaptor Proteins, Signal Transducing, 030304 developmental biology, education.field_of_study, 0303 health sciences, 030219 obstetrics & reproductive medicine, Superoxide Dismutase, business.industry, Hyperandrogenism, Obstetrics and Gynecology, YAP-Signaling Proteins, Middle Aged, medicine.disease, Phenotype, Polycystic ovary, Biobank, 3. Good health, Oligomenorrhea, Ovarian Cysts, Case-Control Studies, Transcriptional Coactivator with PDZ-Binding Motif Proteins, Trans-Activators, Etiology, Female, business, Infertility, Female, Genome-Wide Association Study, Polycystic Ovary Syndrome, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b5dbbd75a0b3144f975140a493278dTest
https://doi.org/10.1101/2019.12.12.19014761Test

المؤلفون: Diego R. Mazzotti, Allan I. Pack, Sarah A. Pendergrass, Navya Shilpa Josyula, Brendan T. Keenan, Christopher R. Bauer, Beth A. Malow, Janet D. Robishaw, Olivia J. Veatch, Kanika Bagai

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, lcsh:Internal medicine, Candidate gene, lcsh:QH426-470, Genotype, Single-nucleotide polymorphism, Disease, Health records, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Ethnicity, Genetics, medicine, Humans, Electronic health records, SNP, Genetic Predisposition to Disease, lcsh:RC31-1245, Genetics (clinical), Genetic association, Pleiotropy, Sleep Apnea, Obstructive, Genetic heterogeneity, business.industry, Sleep disorders, Middle Aged, medicine.disease, Obstructive sleep apnea, Human genetics, nervous system diseases, 3. Good health, respiratory tract diseases, lcsh:Genetics, Phenotype, 030104 developmental biology, Systematic review, 030228 respiratory system, Case-Control Studies, Female, business, 030217 neurology & neurosurgery, Genome-Wide Association Study, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd9599d928809239d82a2ecc223e101Test

المؤلفون: Sarah A. Pendergrass, Yuki Bradford, Marylyn D. Ritchie, Anurag Verma, Scott M. Dudek, Anastasia Lucas, Shefali S. Verma

المصدر: BMC Bioinformatics, Vol 19, Iss 1, Pp 1-8 (2018)
BMC Bioinformatics

مصطلحات موضوعية: 0301 basic medicine, Simulation study, EHR, Computer science, Quantitative Trait Loci, Phenome, Biology, Quantitative trait locus, Bioinformatics, lcsh:Computer applications to medicine. Medical informatics, Polymorphism, Single Nucleotide, Biochemistry, Statistical power, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, Statistics, Range (statistics), Humans, Computer Simulation, Disease, Molecular Biology, lcsh:QH301-705.5, Genetic Association Studies, ICD-9 codes, 030304 developmental biology, Genetic association, 0303 health sciences, Applied Mathematics, PheWAS, Penetrance, Power (physics), Computer Science Applications, Minor allele frequency, Power analysis, Phenotype, 030104 developmental biology, lcsh:Biology (General), Sample size determination, 030221 ophthalmology & optometry, lcsh:R858-859.7, Algorithms, Genome-Wide Association Study, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff1b9f9f0241dcad009e2a40cfb83d52Test
http://link.springer.com/article/10.1186/s12859-018-2135-0Test

المؤلفون: Joseph B. Leader, Marylyn D. Ritchie, Sarah A. Pendergrass, Yu Zhang, Anastasia Lucas, Anqa Khan, Dustin N. Hartzel, Shefali S. Verma, Daniel R. Lavage, Anurag Verma, Navya Shilpa Josyula

المصدر: The American Journal of Human Genetics. 102:592-608

مصطلحات موضوعية: 0301 basic medicine, Context (language use), Genome-wide association study, Single-nucleotide polymorphism, Disease, Biology, Article, Open Reading Frames, 03 medical and health sciences, International Classification of Diseases, Genetics, Electronic Health Records, Humans, Medical diagnosis, Genetics (clinical), Genetic association, Clinical Laboratory Techniques, Genome, Human, Sequence Analysis, RNA, Reproducibility of Results, Molecular Sequence Annotation, Chromatin, Minor allele frequency, Phenotype, 030104 developmental biology, Gene Expression Regulation, Haplotypes, Genetic epidemiology, DNA, Intergenic, Genome-Wide Association Study, Demography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c785761e829bca4b1242823e513500Test
https://doi.org/10.1016/j.ajhg.2018.02.017Test

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

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

مصطلحات موضوعية: 0301 basic medicine, Computer science, Data management, Gene Dosage, General Physics and Astronomy, Genome-wide association study, Task (project management), 0302 clinical medicine, Software, Recurrence, Surveys and Questionnaires, Databases, Genetic, Feature (machine learning), lcsh:Science, Multidisciplinary, Glutamate Decarboxylase, Genomics, 3. Good health, Phenotype, 030220 oncology & carcinogenesis, Alcohol Drinking, Genotype, Process (engineering), Science, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Humans, Alleles, Models, Genetic, Genome, Human, business.industry, Computational Biology, Epistasis, Genetic, Sequence Analysis, DNA, General Chemistry, Data science, Diet, 030104 developmental biology, Diabetes Mellitus, Type 2, lcsh:Q, Gene-Environment Interaction, Programming Languages, Personalized medicine, business, Gene Deletion, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8fe850bb1a4ccca0ebce8cab76ef5b3Test
https://doaj.org/article/bb1e42b5fa3641f4b0265931ee4db643Test

المؤلفون: Anurag Verma, Gene D. Morse, Eric S. Daar, Charles S. Venuto, Shefali S. Verma, Yuki Bradford, David W. Haas, Marylyn D. Ritchie, Sarah A. Pendergrass

المصدر: Pharmacogenetics and Genomics

مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Male, 0301 basic medicine, Oncology, PharmGKB, Pharmacogenomic Variants, Pilot Projects, Genome-wide association study, law.invention, chemistry.chemical_compound, 0302 clinical medicine, Randomized controlled trial, law, Prospective Studies, 030212 general & internal medicine, General Pharmacology, Toxicology and Pharmaceutics, Prospective cohort study, Genetics (clinical), Middle Aged, 3. Good health, Phenotype, Anti-Retroviral Agents, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Molecular Medicine, Female, medicine.drug, Adult, medicine.medical_specialty, Efavirenz, antiretroviral therapy, phenome-wide association studies, Context (language use), Polymorphism, Single Nucleotide, 03 medical and health sciences, Apolipoproteins E, Internal medicine, Genetics, medicine, Humans, Lymphocyte Count, Molecular Biology, pharmacogenomics, Acquired Immunodeficiency Syndrome, clinical trials, business.industry, Original Articles, Atazanavir, Clinical trial, Cytochrome P-450 CYP2B6, 030104 developmental biology, chemistry, Apolipoprotein A-V, HIV-1, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe41f7dc237817633f3dbd02cda76e7aTest
https://doi.org/10.1097/fpc.0000000000000263Test