Document Detail


Minimum Information about a Genotyping Experiment (MIGEN).
MedLine Citation:
PMID:  22180825     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
Jie Huang; Daniel Mirel; Elizabeth Pugh; Chao Xing; Peter N Robinson; Alexander Pertsemlidis; Lianghao Ding; Julia Kozlitina; Joseph Maher; Jonathan Rios; Michael Story; Nishanth Marthandan; Richard H Scheuermann
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Publication Detail:
Type:  Journal Article     Date:  2011-11-22
Journal Detail:
Title:  Standards in genomic sciences     Volume:  5     ISSN:  1944-3277     ISO Abbreviation:  Stand Genomic Sci     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-12-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101530505     Medline TA:  Stand Genomic Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  224-9     Citation Subset:  -    
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