The Cyprus Genome Project

Understanding human genetic variation is vital for identifying the small biological differences between populations and how these effect the response and susceptibility to different diseases. Database resources of genetic variation in many human populations are maintained around the world to enable advanced medical research.

This database is the largest study to date of population-level genetic variation in the Cypriot population. The information presented is based on the DNA sequencing of 10,000 people in Cyprus and comparisons to the DNA sequence of the human reference genome.

The genetic variant viewer below provides an integrated way to present databases of genome variants based on mapping to the chromosome, gene and DNA sequence location.

Instructions for using IGV browser:
  1. Zoom or pan to get in-view features
  2. Orange and Red bars show the Variant Allele Frequency (VAF)
  3. Blue boxes show SNV and INDEL positions - Click to get INFO
  4. ALL populations from gnomAD database (v2.0.1) contain African, Admixed American, East Asian, Finnish, Non-finnish European and other populations

Updated Jan 18 2023: The bioinformatics analysis presented in the genome viewer is based on combining whole exome and gene panel sequencing data for 10 pools of 1000 individuals (10,000 individuals in total). Confidence intervals for each variant were calculated based on the deviation between pools/runs as well as the number of pools each variant was detected in.

The RefSeq assembly and sequence is maintained by the International Genome Reference Consortium (GRC). The IGV viewer is open-source software available from the Broad Institute (Robinson, JT et al.(2017) Variant Review with the Integrative Genomics Viewer (IGV). Cancer Research 77(21) 31-34).