DRAGEN_Combined_SOW.pdf

Statement of Work (SOW)

1. Project Title: Illumina DRAGEN Tier 3 Throughput License and v4 Server

2. Introduction and Background

The National Institutes of Health (NIH) leads federal efforts to conduct and support research aimed at improving health and saving lives. Within NIH, the Undiagnosed Diseases Program (UDP) was created to address the needs of individuals with severe, medically complex conditions that have remained without a diagnosis despite extensive prior clinical evaluation.

The program focuses on identifying precise diagnoses and uncovering new diseases, thereby expanding understanding of human genetics and physiology. Participants in the UDP often arrive after undergoing significant medical workups and frequently present with multiple or atypical clinical features. To meet its objectives, the program employs a wide range of diagnostic and research approaches to explore potential diagnoses and generate insights that advance biomedical knowledge. This contract seeks to acquire the Illumina DRAGEN 500,000 Gb annual throughput license and the Illumina DRAGEN Server v4 hardware platform. These resources are essential for maintaining secure, compliant, and continuous secondary analysis of next-generation sequencing (NGS) data for the NIH UDP. The procurement ensures the computational capacity necessary to support the program’s patient-focused clinical research activities and prevents disruptions caused by outdated or unsupported infrastructure.

3. Statement of Need and Objectives The Undiagnosed Diseases Program (UDP) requires the Illumina DRAGEN 500,000 Gb annual throughput license and the DRAGEN Server v4 to sustain secure, compliant, and high-performance secondary analysis of next-generation sequencing data that directly supports patient clinical research studies. As UDP’s sequencing workload routinely exceeds CIT High-Performance Computing Center allocations, DRAGEN provides essential computational capacity to ensure timely analysis of whole-genome, whole-exome, and transcriptome datasets crucial for advancing rare-disease investigations. The current DRAGEN server, procured in 2017, has reached end-of-support, and its CentOS 7 operating system no longer receives security updates, creating operational and compliance risks. Additionally, outdated processors, limited memory, and first-generation FPGA hardware cannot run modern DRAGEN pipelines, including pangenome references and improved variant-calling workflows needed to support high-quality clinical research. Acquisition of the updated throughput license and DRAGEN Server v4 is therefore necessary to prevent analysis delays, maintain NIH IT security compliance, and ensure uninterrupted genomic interpretation capacity for patient-focused clinical research studies.

4. Product Specifications/Features/Salient Characteristics

1. Illumina DRAGEN Server v4 The Illumina DRAGEN Integrated Server v4 provides secure, compliant, and high-performance secondary analysis of next-generation sequencing (NGS) data for whole-genome, whole-exome, and transcriptome workflows. The server is required to replace the existing 2017 DRAGEN system, which has reached end-of-support and no longer meets NIH security requirements.

Key Hardware & System Features

• On-board Field-Programmable Gate Array (FPGA) for hardware-accelerated genomic processing.

• Modernized server-grade CPU, memory, and system architecture supporting current

DRAGEN workflows (including those incompatible with the legacy dual Intel Xeon + 512 GB RAM system).

• Updated operating system and security platform ensuring NIH IT compliance, replacing the unsupported CentOS 7 system.

• Supports updated DRAGEN pipelines, including:

o Pangenome reference-based workflows o Enhanced germline variant calling o Enhanced somatic variant calling o Improved stability and throughput for high-volume sequencing analysis

Functional Requirements

• Must provide uninterrupted, compliant computational capacity for NGS secondary analysis.

• Must support genomic analysis needs of medically complex Undiagnosed Diseases

Program (UDP) cases.

• Must operate as an integrated solution with the Tier-3 500,000 Gb throughput license.

2. Illumina DRAGEN Tier-3 Throughput License (500,000 Gb Annual Capacity) The Tier-3 license provides 500,000 Gb of annual throughput capacity for accelerated DRAGEN analysis, enabling UDP to process high-volume whole-genome, whole-exome, and transcriptome datasets when internal HPC allocations are exceeded.

Key Specifications

• Provides 500,000 Gb of annual DRAGEN compute throughput.

• Fully compatible with the Illumina DRAGEN Integrated Server (including the v4 system).

• Ensures rapid turnaround for high-complexity genomic cases requiring secondary analysis beyond CIT HPC availability.

3. Combined System Requirements Together, the DRAGEN Server v4 and the 500,000 Gb Tier-3 Throughput License must:

• Provide secure, compliant capacity for mission-critical genomic interpretation.

• Support modern DRAGEN workflows and pangenome-based analyses.

• Replace unsupported legacy infrastructure to maintain NIH cybersecurity standards.

• Prevent analysis delays for rare-disease UDP cases requiring rapid turnaround.

5. General Contractor Responsibilities The Tier3 500,00Gb analysis throughput must be compatible with the existing DRAGEN Integrated Server.

6. Delivery or Performance Location UDP Translational Laboratory 5625 Fishers Lane, Room 5N03 Rockville, MD 20852 301-827-5818 vbraden@mail.nih.gov

7. Delivery Date Throughput access must be delivered within 30 days after award.

Delivery must be verified upon activation

8. Inspection and Acceptance

Throughput access will be verified upon delivery.

9. Point of Contact Valerie Maduro vbraden@mail.nih.gov 301-827-5818

10. Security Not Applicable

11. Government Furnished Property (GFP) and Government Furnished Information (GFI) Not Applicable

12. Invoices

• Two-Way Invoices: The Contractor shall submit invoices to the Department of Treasury’s Invoice Processing Platform (IPP) at:

1. https://www.ipp.gov and https://www.ipp.gov/

2. NHLBIContractsBranchB@mail.nih.gov

• Three-Way Invoices: The Contractor shall submit invoices to the Department of Treasury’s Invoice Processing Platform (IPP) at https://www.ipp.gov

• Invoices shall be submitted on a monthly basis no later than 10 business days after the billing cycle of the previous month.

• Invoices shall include only those services rendered during the billing period.

• Invoices shall be billed at the rates, and in accordance with the Contract Line Item Number (CLIN), as listed in the Schedule of Items.

• The Contractor shall submit invoices to the Department of Treasury’s Invoice Processing

Platform (IPP) at https://www.ipp.gov mailto:NHLBIContractsBranchB@mail.nih.gov https://www.ipp.gov/ https://www.ipp.gov/

3. Combined System Requirements