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Chunk #8 — Methods — Annotate Sequence Datasets and Summary Association Statistics

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SEQMINER: An R-Package to Facilitate the Functional Interpretation of Sequence-Based Associations.
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Annotation information is necessary for the analysis and interpretation of sequence‐based association. For example, annotation information is needed to determine the analysis unit in gene‐level association tests (i.e., nonsynonymous variants within a gene). Bioinformatics databases such as functional prediction scores were shown to be helpful in prioritizing causal variants and improving power for detecting genotype‐phenotype associations [Price et al., 2010].