Genetic Analysis Platform
The Genetic Analysis platform works with other Broad scientists to identify human genetic variants and to establish links to disease risk and treatment outcome. The platform has been a major contributor to the International Haplotype Map Project and serves as a national genotyping center under a NIH/NCRR program.
The Genetic Analysis platform is led by Stacey Gabriel, who brings expertise in human genetics and management of large-scale genomic projects. Marcia Nizzari, who has over 20 years experience in commercial software development, supervises Production Informatics Software Development for the platform
The platform's major projects and services include:
- Broad/NCRR Center for Genotyping and Analysis
Under funding from the National Center for Research Resources, the Broad's Genetic Analysis platform offers high-quality data generation and analytical methods to outside investigators. A secure website allows outside investigators to store information, view experimental progress and integrate data with rapidly evolving methods for genetic analysis. - NHLBI CARe
Center
The platform's major activities include:
- Genotyping
Platform scientists produce and analyze genotype data from single nucleotide polymorphisms (SNPs) from patient samples, enabling the discovery of associations between SNPs and clinical outcomes of interest. The platform supports several genotyping technologies, allowing studies ranging from individual SNPs to 500,000 SNPs across the human genome. - Resequencing
Genetic resequencing involves discovering mutations in targeted regions, with the goal of finding causes of inherited and acquired diseases. The Genetic Analysis platform works closely with the Genome Sequencing platform on these activities. - Informatics development
Integrated bioinformatics systems are essential to manage and analyze the massive data sets generated by the platform. The platform's informatics team develops and maintains these systems.
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