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Chunk #9 — 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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SEQMINER implements comprehensive features for annotating sequence variants and summary association statistics. The package is designed to take generic tab‐delimited files as input, which saves ad hoc efforts from users for preparing intermediate input files. Supported file formats include sequence variant genotypes in VCF/BCF format [Danecek et al., 2011] or files of summary association statistics in METAL [Willer et al., 2010] or RAREMETAL format [Feng et al., 2014; Liu et al., 2014].