Nationwide Children's High Throughput Genotyping & Sequencing
The High Throughput Genotyping and Sequencing Core provides sequence analysis for clinical applications and a variety of genotyping methods for research investigations.
Clinical Sequence Analysis: After identification of a causative gene for genetic disorder in an internal or external research lab, the core validates and offers sequence analysis of the gene under clinical standards and regulations.
High Throughput Genotyping: A variety of platforms are available for microsatellite or single nucleotide (SNP) analysis, depending on the number of loci and patients being analyzed. Microsatellite analysis is performed using fluorescently-labeled PCR primers with electrophoreses and analysis on the Applied Biosystems (AB) Genetic Analyzers (3130 or 3730). SNP analysis can be performed using the SNPlexTM Genotyping System (Applied Biosytems, up to 48 SNPs per reaction), allele discrimination using TaqManR technology (Applied Biosystems Sequence Detection System 7900HT), or analysis by liquid hybridization on the Luminex 200 (up to 50 SNPs per reaction).
The core works with investigators to determine the best approach for the research project and the degree of analysis to be performed in the core vs. the investigator’s laboratory. Array-based SNP analysis is available through the Functional Genomics Core.
Julie Gastier-Foster, PhD