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Genetic Analysis Workshop 17 mini-exome simulation.

ABSTRACT: The data set simulated for Genetic Analysis Workshop 17 was designed to mimic a subset of data that might be produced in a full exome screen for a complex disorder and related risk factors in order to permit workshop participants to investigate issues of study design and statistical genetic analysis. Real sequence data from the 1000 Genomes Project formed the basis for simulating a common disease trait with a prevalence of 30% and three related quantitative risk factors in a sample of 697 unrelated individuals and a second sample of 697 individuals in large, extended pedigrees. Called genotypes for 24,487 autosomal markers assigned to 3,205 genes and simulated affection status, quantitative traits, age, sex, pedigree relationships, and cigarette smoking were provided to workshop participants. The simulating model included both common and rare variants with minor allele frequencies ranging from 0.07% to 25.8% and a wide range of effect sizes for these variants. Genotype-smoking interaction effects were included for variants in one gene. Functional variants were concentrated in genes selected from specific biological pathways and were selected on the basis of the predicted deleteriousness of the coding change. For each sample, unrelated individuals and family, 200 replicates of the phenotypes were simulated.

SUBMITTER: Almasy L

PROVIDER: S-EPMC3287854 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature

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Genetic Analysis Workshop 17 mini-exome simulation.

Almasy Laura L Dyer Thomas D TD Peralta Juan Manuel JM Kent Jack W JW Charlesworth Jac C JC Curran Joanne E JE Blangero John J

BMC proceedings 20111129

The data set simulated for Genetic Analysis Workshop 17 was designed to mimic a subset of data that might be produced in a full exome screen for a complex disorder and related risk factors in order to permit workshop participants to investigate issues of study design and statistical genetic analysis. Real sequence data from the 1000 Genomes Project formed the basis for simulating a common disease trait with a prevalence of 30% and three related quantitative risk factors in a sample of 697 unrela ...[more]

PMID: 22373155

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Project description:Background:Simulation-based education (SBE) is increasingly endorsed as an educational strategy. It allows health-care professionals to practice clinical skills within a safe learning environment, and requires devices for simulation or simulated patients, trained teachers, and an appropriate environment. The objective of this study was to evaluate perceptions of participants on SBE and an SBE workshop. Methods:A 1-day SBE workshop was conducted on September 4, 2018, in collaboration with Laerdal Global Health Nepal and the National Centre for Health Professions Education (NCHPE), Institute of Medicine, Kathmandu, Nepal. Semistructured pretest and posttest questionnaires were used to evaluate the perceptions of participants regarding SBE and the effectiveness of the workshop. Data were analyzed using SPSS 21. Results:The mean difference in participant perceptions of SBE before and after participation in the workshop was significant (P<0.05) on seven statements: enhances communication skills (pretest 4.53±0.72, posttest 4.84±0.75; P=0.03), helps in seeing and managing even rarest of cases (pretest 3.59±1.00, posttest 4.21±0.92; P=0.02), overcomes the problem of uncooperative patients (pretest 3.12±0.93, posttest 3.95±1.22; P=0.004), increases confidence of students in dealing with real patients (pretest 4.29±0.77, posttest 4.79±0.42; P=0.041), enables preparation of rating scales for skills and attitude evaluation (pretest 3.76±0.83, posttest 4.11±0.76; P=0.049), provides immediate feedback during simulation (pretest 4.06±0.9, posttest 4.58±0.51; P=0.016), and keeps materials/equipment ready before simulation (pretest 4.29±0.68, posttest 4.79±0.53; P=0.007). Mean scores for participant feedback on the workshop using a Likert scale of 1-5 (5= strongly agree, 1= strongly disagree) were notable: objective of workshop fulfilled (4.16±0.688), session very interesting (4.37±0.597), session useful for future job (4.47±0.513), scenario relevant to subject (4.21±0.787), what I learnt will be useful in practice (4.05±0.78), resource persons/facilitators were helpful and effective (4.37±0.597), professional (4.42±0.507), and answered all questions (4.32±0.478), and course content was presented clearly (4.26±0.452). Almost all participants found the workshop useful and well presented, and suggested conducting such workshops frequently. Conclusion:The SBE workshop produced substantial differences in perceptions of participants. Participants found the workshop effective in improving knowledge and understanding of SBE.

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Genetic Analysis Workshop 17 mini-exome simulation.

Publications

Genetic Analysis Workshop 17 mini-exome simulation.

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