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Welcome to the Genomic Data Search user interface, a resource designed to facilitate the exploration of Repository biospecimens that have been characterized with large-scale sequencing technologies. Below you can access tools developed by Coriell.
SNP Search is a dynamic variant-level query of whole genome sequencing data collected from the 1000 Genomes Project sample collection. Variant calls were generated using human reference genome build GRCh38. The SNP level, multi-SNP level, and Gene level searches query data collected from 3,202 individuals living around the world. Additional details pertaining to sequence data collection and analysis can be found in Byrska-Bishop et al., 2022, and a description of the tool can be found in Gharani et al., 2024; please cite both publications when using this resource in research studies.
Click here to go to SNP Search
Gene Expression Search is a dynamic query of gene expression data collected from a subset of the 1000 Genomes Project samples. Additional details pertaining to data collection and analysis can be found in Lappalainen et al., 2013, and a description of the tool can be found in Gharani et al., 2024; please cite both publications when using this resource in research studies.
Click here to go to Gene Expression Search
Star Allele Search is a dynamic query of *alleles (i.e., pharmacogenetic annotations) based on whole genome sequencing data collected from the 1000 Genomes Project sample collection, including 3,202 individuals living around the world. Additional details pertaining to the *allele annotation can be found in Calendo et al., 2024, and additional details pertaining to the samples and sequence data collection and analysis can be found in Gharani et al., 2024; please cite both publications when using this resource in research studies.
Click here to go to Star Allele Search
All DNA samples listed in this GeT-RM PGx Search Tool have been characterized by the Genetic Testing Reference Material program (GeT-RM) and are publicly available from the NIGMS Human Genetic Cell Repository and NHGRI Sample Repository for Human Genetic Research housed at the Coriell Institute for Medical Research. A downloadable spreadsheet of the consolidated data is also available at GeT-RM.
The following publications describe the detailed methodologies used for each GeT-RM annotation dataset
1) Pratt et al., J Mol Diagn (2010)
2) Pratt et al., J Mol Diagn (2016)
3) Gaedigk et al., J Mol Diagn (2019)
4) Gaedigk et al., J Mol Diagn (2022)
5) Pratt et al., J Mol Diagn (2021)
6) Pratt et al., J Mol Diagn (2022)
7) Gaedigk et al., J Mol Diagn (2023)
8) Bettinotti et al., J Mol Diagn (2018)
9) Gaedigk et al., J Mol Diagn (2024)
Click here to go to GeT-RM PGx Search
