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Fig. 8 | Genome Biology

Fig. 8

From: Comparative transcriptome in large-scale human and cattle populations

Fig. 8

Transcriptionally conserved genes provide insights into the genetics of complex traits. a Heatmap of heritability enrichments obtained from LDSC for 46 human complex traits in transcriptionally and DNA sequence-conserved genes (measured by both dN/dS and PhastCons scores). All orthologous genes are ranked (from largest to smallest) based on –log10p obtained from the differential gene expression analysis in each of 20 tissues between humans and cattle. The bottom 10% of genes are considered as transcriptionally conserved genes in each tissue, respectively. The 10% of genes with the smallest dN/dS ratios are considered as DNA sequence conserved, whereas the 10% of genes with the largest PhastCons scores are also considered as DNA sequence conserved. In each trait, tissues or sequence-conserved genes with the top heritability enrichment are denoted as triangle, others as dots. b Bar plot shows the number of SNPs identified by PolyFun + SuSiE (blue) and SuSiE (red) at different PIP (posterior inclusion probability) cutoffs, respectively. c Comparison of FAETH scores of SNPs within transcriptionally conserved and diverged genes. SNPs located within 1000 bp up- and downstream of a gene are included. d Violin plot compares the LOEUF scores (up) and the dN/dS ratios (bottom) of transcriptionally conserved and diverged genes across 20 tissues. “*,” “**,” and “****” represents the P < 0.05, 0.01, 0.0001, respectively, from one-side Student’s t test

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