Specimens obtained from CCPM biobank participants were genotyped with the help of the Illumina MEGA chip and Whole Exome Sequencing (WES) with the Regeneron Genetics Center. The raw MEGA chip data was obtained from over 1.7 million SNPs, while raw WES data was obtained from over 10.8 million SNPs. Imputation adds an additional 50 million SNPs available on genotyped biobank participants.
TIS provides a coverage check to determine if your SNP or region of interest has been genotyped on the MEGA chip, WES, or imputed in a subsequent analysis.
Examples of questions suitable for genotype coverage requests:
- Has a SNP of interest been genotyped and passed quality control on the MEGA chip and/or WES?
- Did a specific SNP get imputed, and what was the quality of imputation?
- Is my SNP of interest available within the most recent research data freeze?