Clinical Long Read Genomics services for the NIAID Centralized Sequencing Program

In support of clinical research, the NIAID Centralized Sequencing Program (CSP) is comprehensive program that obtains genetic testing, harmonizes phenotypic and genomic data, performs variant interpretation, and provides clinically validated results for patients enrolled in protocols at the NIH Clinical Center. The goal of the NIAID Centralized Sequencing Program is both to contribute to the understanding of underlying genetic etiology of disease and to address the clinical need for genomic evaluations.

The purpose of this acquisition is to support the mission of DIR to obtain genetic testing for the NIAID CSP. The objective is to purchase both symptom-driven long read sequencing analysis and targeted long read sequencing. The results of this testing will have direct implications for the care of NIH patients and for the discovery of disease mechanisms. The scope of this effort includes the services and industry knowledge necessary to provide long read sequencing as specified in this SOW.