Introduction to genetic analysis workshop 17 summaries. 2011

Andreas Ziegler, and Saurabh Ghosh, and Thomas D Dyer, and John Blangero, and Jean MacCluer, and Laura Almasy
Institut für Medizinische Biometrie und Statistik, Universität zu Lübeck, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Germany. ziegler@imbs.uni-luebeck.de

Genetic Analysis Workshop 17 (GAW17) was held on October 13-16, 2010, in Boston, Massachusetts. The focus of GAW17 was on methods and challenges of the analysis of next-generation sequence data using a mini-exome data set. Two different study designs were simulated, unrelated individuals and large families, each with the same sample size. GAW17 was attended by 274 participants from 19 countries. The 166 contributions were organized into 15 discussion groups of 5-13 articles each. This supplement to Genetic Epidemiology provides further details on GAW17, and primary findings are highlighted in the individual group summary articles. In addition, the supplement includes two methodological articles (one on statistical approaches for collapsing methods and one on machine learning methods) to give an overview of the methods that many of the workshop participants used. We conclude the supplement with a discussion of critical aspects in the analysis of next-generation sequencing data.

UI MeSH Term Description Entries
D001900 Boston City located in Massachusetts.
D003226 Congresses as Topic Works about conferences, conventions or formal meetings usually attended by delegates representing a special field of interest. Conferences,Conference Proceedings as Topic,Conferences and Congresses,Conferences and Proceedings,Congresses and Conferences,Professional Meetings and Conferences,Congresses as Topics,Proceedings and Conferences,Topics, Congresses as
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015233 Models, Statistical Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc. Probabilistic Models,Statistical Models,Two-Parameter Models,Model, Statistical,Models, Binomial,Models, Polynomial,Statistical Model,Binomial Model,Binomial Models,Model, Binomial,Model, Polynomial,Model, Probabilistic,Model, Two-Parameter,Models, Probabilistic,Models, Two-Parameter,Polynomial Model,Polynomial Models,Probabilistic Model,Two Parameter Models,Two-Parameter Model
D016045 Human Genome Project A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME. Genome Project, Human,Human Genome Diversity Project,Human Genome Mapping Project,Genome Projects, Human,Human Genome Projects,Project, Human Genome,Projects, Human Genome
D017421 Sequence Analysis A multistage process that includes the determination of a sequence (protein, carbohydrate, etc.), its fragmentation and analysis, and the interpretation of the resulting sequence information. Sequence Determination,Analysis, Sequence,Determination, Sequence,Determinations, Sequence,Sequence Determinations,Analyses, Sequence,Sequence Analyses
D017720 Molecular Epidemiology The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples. Epidemiology, Molecular,Genetic Epidemiology,Epidemiologies, Genetic,Epidemiologies, Molecular,Epidemiology, Genetic,Genetic Epidemiologies,Molecular Epidemiologies
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms

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