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Chunk #9 — METHOD AND PIPELINE — Data collection and processing

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GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications.
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Genome Browser. Furthermore, GWAS3D used position frequency matrices of 73 transcription factors motifs grouped by family (ENCODE motifs) from ENCODE web site, which provides a comprehensive resource of 245 known motifs curated from TRANSFAC, Jaspar and protein-binding microarray experiments, and 293 novel motifs discovered by motif finding tools (including MEME, MDscan, Weeder, AlignACE) using large numbers of ChIP-Seq data. To consider the regions with evolutionary constraint, we also used the conservative elements by genomic evolutionary rate profiling (31) and used these signals to prioritize the suspected deleterious variants.