Genome Biology & Applied Bioinformatics

Genome Biology & Applied Bioinformatics

Genome Biology & Applied Bioinformatics SNP Sets Mehmet Tevfik DORAK, MD PhD YOUR FUTURE

STARTS WITH HOPE Schedule Outline I. Proxy SNP (ssSNP) sets

(HaploReg, VADE) II. Independent SNP Sets RegulomeDB, CADD Variant Set Enrichment Analysis (GRAIL) III. wANNOVAR, AVIA

Proxy SNP Set Generation HaploReg generates a statistically similar SNP (ssSNP) set for each SNP together with their functional annotations. The Set Options tab allows setting the desired r2 value (0.80 by default). eQTL results are included. For best outcome, choose the text file output option and examine the results in a spreadsheet.

Proxy SNP Set Once an ssSNP set is generated, it can be annotated using the tools listed in next few slides to assess their functionality to choose the most likely causal SNP. The ssSNP list (and HaploReg results) can also be used to make a list of target genes to be used in a gene set enrichment analysis (for

combinatorial effects of multiple variants in linkage disequilibrium). Most tools available to generate a list of ssSNPs only include SNPs within 500kb of the lead SSNP. To go beyond that may be necessary, for example, for HLA region SNPs, and this can be achieved by downloading selected SNP genotypes from 1KG (Ferret is helpful) and running the LD analysis on

Haploview. Independent SNP Sets Independent SNP Sets Independent SNP Sets

VSE Analysis for SNPs (GRAIL) VSE Analysis for SNPs (GRAIL) Figure 1. Gene Relationships Among Implicated Loci (GRAIL) method consists of four steps. (A) Identifying genes in disease regions. For each

independent associated SNP or CNV from a GWAS, GRAIL defines a disease region; then GRAIL identifies genes overlapping the region. In this region there are three genes. We use gene 1 (pink arrow) as an example. (B) Assess relatedness to other human genes. GRAIL scores each gene contained in a disease region for relatedness to all other human genes. GRAIL determines gene relatedness

by looking at words in gene references; related genes are defined as those whose abstract references use similar words. Here gene 1 has word counts that are highly similar to gene A but not to gene B. All human genes are ranked according to text-based similarity (green bar), and the most similar genes are considered related. (C) Counting regions with similar genes. For each gene in a disease region,

GRAIL assesses whether other independent disease regions contain highly significant genes. GRAIL assigns a significance score to the count. In this illustration gene 1 is similar to genes in three of the regions (green arrows), including gene A. (D) Assigning a significance score to a disease region. After all of the genes within a region are scored, GRAIL identifies the most significant gene as the

likely candidate. GRAIL corrects its significance score for multiple hypothesis testing, to assign a significance score to the region. More Advanced Tools Looking forward



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