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Chunk #13 — Methods — Efficient Retrieval of Summary Association Statistics and Sequence Variants

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SEQMINER: An R-Package to Facilitate the Functional Interpretation of Sequence-Based Associations.
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SEQMINER allows efficient queries for tabix‐indexed sequence datasets (either preprocessed or generic). Built‐in functions in SEQMINER implement a variety of frequently used queries, including extracting summary association statistics by genomic position, gene names, or annotation types. For example, it takes only one command to extract genotype (GT) information for synonymous variants (NS) in a given gene, as well as the allele frequency (AF), allele count (AC), and the positions (CHROM, POS) of the variants readVCFToListByGene (fileName, geneFile, geneName="CFH", annoType="Synonymous", vcfColumn=c("CHROM", "POS"), vcfInfo = c("AF", "AC"), vcfIndv=c("GT")).