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Fig. 1 | Genome Biology

Fig. 1

From: Intergenic disease-associated regions are abundant in novel transcripts

Fig. 1

Capturing novel transcripts from intronic and intergenic GWAS regions. a Schematic of the experimental design. LD blocks were predicted around GWAS SNPs (colored pins) by identifying proxy (i.e. co-inherited) SNPs (r2 > 0.5) from Hapmap23 and 1000 genomes (white pins). Oligonucleotide probes were designed for 561 intronic and intergenic GWAS regions and hybridized to transcriptomes of 21 target tissues. The captured transcripts were sequenced, assembled, and mapped back to the genome. b Enrichment of captured transcripts. Expression of all captured (red) and non-captured (black) transcripts annotated in GENCODE (v.19) was compared between testis CaptureSeq sample (y-axis) vs testis RNA-seq from Illumina Body Atlas (x-axis). Correlation coefficients are 0.29 for captured transcripts and 0.55 for GENCODE genes. FPKM: fragments per kilobase of transcripts per million mapped reads. c Occupancy of 561 intergenic haploblocks by multi-exonic captured transcripts. The majority of haploblocks (84.8%) contain at least one transcript with FPKM > 1. d Counts of captured multi-exonic transcripts with FPKM > 1 across tissues

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