The following tables summarize our results from a genome-wide CMS analysis of the 1000 Genomes pilot release data.
CMS scores
Genome-wide CMS scores in the YRI, CEU, and JPT+CHB
Localized CMS regions:
Genome-wide scores as a UCSC Genome Browser track (these files can be uploaded as a custom track and viewed using the UCSC Genome Browser)
Functional annotation
These tables contain functional annotation and enrichment analysis of the selected regions.
Tables from Publication | |
Regions identified by genome-wide CMS | xlsx |
Localized CMS regions | xlsx |
Enrichment of functional variants | xlsx |
Enrichment of gene pathways | xlsx |
Candidate selective regions that overlap lincRNAs | xlsx |
Characterization of high-scoring non-synonymous SNPs | xlsx |
Candidate selective regions that overlap eQTLs | xlsx |
CMS high-scoring SNPs in active enhancers or promoters | xlsx |
Trait-associated CMS high-scoring SNPs | xlsx |
Additional Tables | |
Structural variants in selected regions | xlsx |
Enrichment analysis was done using INRICH[1] and a set of manually curated lists as reference functional pathways.
References
- Lee PH, O'Dushlaine C, Thomas B, Purcell SM. INRICH: interval-based enrichment analysis for genome-wide association studies. Bioinformatics. 2012 Jul 1;28(13):1797-9. Epub 2012 Apr 17. PubMed PMID: 22513993.