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  Minimum Information about a Genotyping Experiment (MIGEN)

Huang, J., Mirel, D., Pugh, E., Xing, C., Robinson, P. N., Pertsemlidis, A., et al. (2011). Minimum Information about a Genotyping Experiment (MIGEN). Stand Genomic Sci, 5(2), 224-9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22180825 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235517/pdf/sigs.1994602.pdf?tool=pmcentrez.

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Huang, J., Author
Mirel, D., Author
Pugh, E., Author
Xing, C., Author
Robinson, P. N.1, Author              
Pertsemlidis, A., Author
Ding, L., Author
Kozlitina, J., Author
Maher, J., Author
Rios, J., Author
Story, M., Author
Marthandan, N., Author
Scheuermann, R. H., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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 Abstract: Genotyping experiments are widely used in clinical and basic research laboratories to identify associations between genetic variations and normal/abnormal phenotypes. Genotyping assay techniques vary from single genomic regions that are interrogated using PCR reactions to high throughput assays examining genome-wide sequence and structural variation. The resulting genotype data may include millions of markers of thousands of individuals, requiring various statistical, modeling or other data analysis methodologies to interpret the results. To date, there are no standards for reporting genotyping experiments. Here we present the Minimum Information about a Genotyping Experiment (MIGen) standard, defining the minimum information required for reporting genotyping experiments. MIGen standard covers experimental design, subject description, genotyping procedure, quality control and data analysis. MIGen is a registered project under MIBBI (Minimum Information for Biological and Biomedical Investigations) and is being developed by an interdisciplinary group of experts in basic biomedical science, clinical science, biostatistics and bioinformatics. To accommodate the wide variety of techniques and methodologies applied in current and future genotyping experiment, MIGen leverages foundational concepts from the Ontology for Biomedical Investigations (OBI) for the description of the various types of planned processes and implements a hierarchical document structure. The adoption of MIGen by the research community will facilitate consistent genotyping data interpretation and independent data validation. MIGen can also serve as a framework for the development of data models for capturing and storing genotyping results and experiment metadata in a structured way, to facilitate the exchange of metadata.

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 Dates: 2011
 Publication Status: Published in print
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Title: Stand Genomic Sci
Source Genre: Journal
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Pages: - Volume / Issue: 5 (2) Sequence Number: - Start / End Page: 224 - 9 Identifier: ISSN: 1944-3277 (Electronic) 1944-3277 (Linking)