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المؤلفون: Kyproula Christodoulou, Andreas Hadjisavvas, Maria A. Loizidou, Maria Zanti, Kyriacos Kyriacou, Kyriaki Michailidou, Christina Machattou, Panagiota Pirpa, George M. Spyrou
المصدر: BMC Bioinformatics, Vol 22, Iss 1, Pp 1-21 (2021)
BMC Bioinformaticsمصطلحات موضوعية: Pipeline comparison, Computer science, QH301-705.5, Computer applications to medicine. Medical informatics, R858-859.7, Interval (mathematics), Computational biology, Biochemistry, Padding, Polymorphism, Single Nucleotide, Germline, 03 medical and health sciences, Germline NGS data analysis, Structural Biology, Variant calling, Humans, Biology (General), Molecular Biology, 030304 developmental biology, Alignment, 0303 health sciences, Next-generation sequencing (NGS), Research, Applied Mathematics, 030305 genetics & heredity, Computational Biology, High-Throughput Nucleotide Sequencing, Interval padding, Pipeline (software), Computer Science Applications, Pipeline transport, Identification (information), Germ Cells, Null (SQL), DNA microarray, Software
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2
المؤلفون: Panayiotis Kouis, Andreas Hadjisavvas, Louiza Potamiti, Kyriaki Michailidou, Aigli Evriviadou, Panayiotis K. Yiallouros, Pinelopi Anagnostopoulou, Kyriacos Kyriacou, Panayiota Pirpa, Ioannis Tsiolakis, Maria A. Loizidou, Andreas M. Matthaiou
المصدر: Human mutationREFERENCES. 42(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Prevalence, Disease, Biology, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, Internal medicine, Genetics, medicine, Humans, Family, Genetic Testing, Child, Genetics (clinical), 030304 developmental biology, Primary ciliary dyskinesia, Aged, 0303 health sciences, Greece, 030305 genetics & heredity, Respiratory disease, High-Throughput Nucleotide Sequencing, Infant, Middle Aged, medicine.disease, Genetic epidemiology, Molecular Diagnostic Techniques, Child, Preschool, Cohort, Cyprus, Mutation, Female, Genetic diagnosis, Ciliary Motility Disorders
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3
المؤلفون: Amy V. Spencer, Kyriaki Michailidou, Angela Cox, Douglas F. Easton, Wei-Yu Lin, Kevin Walters
المصدر: Genetic Epidemiology
مصطلحات موضوعية: Genotype, Epidemiology, hyperparameter, single‐nucleotide polymorphism, Breast Neoplasms, Polymorphism, Single Nucleotide, 03 medical and health sciences, Bayes' theorem, expert knowledge, Prior probability, Statistics, Humans, Computer Simulation, Genetic Association Studies, Research Articles, Genetics (clinical), Probability, 030304 developmental biology, Mathematics, elicitation, Hyperparameter, 0303 health sciences, Models, Genetic, 030305 genetics & heredity, Uncertainty, Univariate, International Agencies, Bayes Theorem, Bayes factor, filtering, sensitivity, flexibility, Sample size determination, Case-Control Studies, Sample Size, fine mapping, Probability distribution, Female, empirical, Research Article, Quantile