Bio Spec Overview
Ignite Creation Date:
2025-12-24 @ 6:52 PM
Last Modification Date:
2025-12-24 @ 6:52 PM
Retention:
SAMPLES_WITH_DNA
Description:
Our approach for SNP selection from candidate genes includes maximum utilization of data available from databases (dbSNP, HapMap) and from our own screening for informative genetic markers. In general, SNP variants for genotyping will be selected from available databases, such as dbSNP. In cases where a candidate gene has not been screened comprehensively and/or where data on allele frequencies is not readily available (estimated in 20-25 out of 50 genes, such as ANG-1, ALK-1, etc.), SNPs will be detected by direct sequencing of 20-40 study subjects. This will allow us to identify all alleles with population frequency \>5%, including intronic SNPs, variants from the regulatory regions (mainly promoters), and cSNPs included in open reading frames. Data obtained by direct screening also validates the information extracted from databases, which still contain incomplete information in up to 25% of cases.
Section:
Our approach for SNP selection from candidate genes includes maximum utilization of data available from databases (dbSNP, HapMap) and from our own screening for informative genetic markers. In general, SNP variants for genotyping will be selected from available databases, such as dbSNP. In cases where a candidate gene has not been screened comprehensively and/or where data on allele frequencies is not readily available (estimated in 20-25 out of 50 genes, such as ANG-1, ALK-1, etc.), SNPs will be detected by direct sequencing of 20-40 study subjects. This will allow us to identify all alleles with population frequency \>5%, including intronic SNPs, variants from the regulatory regions (mainly promoters), and cSNPs included in open reading frames. Data obtained by direct screening also validates the information extracted from databases, which still contain incomplete information in up to 25% of cases.