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Analysis Genomic Analysis

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Generally, genome‐wide genotyping or sequencing is the first analytic step. Such studies may use newly collected blood samples or stored blood samples (or extracted DNA or RNA) made available by a biorepository. Depending on the goal of the study and its design, genome‐wide genotyping, sequencing, gene expression, or epigenetic analysis may be performed on these samples. Some studies may be able to re‐use stored genotype or sequence data available from public repositories (such as dbGaP [https://www.ncbi.nlm.nih.gov/gap] or the European Genome‐phenome Archive [https://www.ebi.ac.uk/ega/home]) or from prior studies of the sample being used. The technologies and approaches to these molecular experiments are covered in Chapter 10. In each case, it is important to formulate a quality control plan to detect potential laboratory errors such as sample switches, failed genotyping probes, sequencing errors, and batch effects. When possible, coordinating laboratory analysis with initial analytic quality control is optimal for finding and correcting such errors. If archived genomic data are being used, careful review of the initial quality control protocols and further checks (when possible) in the subsequent analysis is recommended.

Genetic Analysis of Complex Disease

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