Call for Sample Submission for Long Read Sequencing

Introduction

Long-read sequencing can offer a more complete and detailed view of the genome by addressing the limitations of short-read sequencing. Its applications are likely to provide additional insights such as better characterisation of genomes where structural variations and complex rearrangements are common and have the capability of detecting DNA methylation patterns at the same time. These insights are of interest to Singapore as they may uncover novel regulatory mechanisms and improve our understanding of how environmental and lifestyle factors interact with our genes to cause disease and aging.

PRECISE would like to extend an invitation to Singapore’s academic research community to submit research proposals for the opportunity to sequence human genomic DNA (‘gDNA’) samples employing Pacific Bioscience’s (‘PacBio’) HiFi Long Read Technology using Single Molecule, Real Time (‘SMRT’) cells.

PRECISE is not providing any funding for this Call.

Research Objectives

Applicants should aim to submit proposals that demonstrate the value of long-read sequencing in two key aspects:

1. Improving understanding of human genetics and diagnosis of unresolved conditions; and

2. Creating novel applications and translational research outcomes to improve population health and high impact disease conditions.

Scope of this Call

1. For this Call for Sample Submission, a total of 500 SMRT cells and accompanying sequencing services (research grade) are available. The application must specify the number of SMRT cells required for the proposal and PRECISE will evaluate the number of SMRT cells to be awarded to each proposal.

2. Principal Investigators (‘PIs’) are responsible for submitting human gDNA samples that meet the Sample Administrative, Preparation, and Submission Requirements (see Resources). Neither PRECISE, PacBio nor sequencing provider will be responsible for suboptimal sequencing data as a result of sample quality issue or providing additional SMRT cells.

3. Research objectives should be focused, ambitious yet achievable.

4. Proposals should aim to deliver at least one major scientific publication within two years upon receiving sequencing data.

5. PIs are agreeable to share data with NPM programme by depositing the data in PRECISE-SG100K genomic archive upon publication.

6. PIs must acknowledge in the application form that they might need to wait for up to six months for their samples to be sequenced. PRECISE reserves the right to revise this timeline in accordance with sample readiness, quality, and other factors.

7. No funding or other support will be provided from PRECISE.

Project Team

1. Lead Principal Investigator (‘Lead PI’) is required to hold a primary appointment in a publicly funded institution in Singapore.

2. Each proposal may have only one Lead PI and a maximum of two co-Lead PIs.

3. The Project Team must demonstrate capability to perform data analysis; collaborators or data analysts may be included if needed.

4. No industry collaborations are permitted under this Call.

Evaluation Criteria

1. Project team (10%)

• Quality of the project team

• Demonstrated ability for downstream data analysis

2. Sample selection (20%)

• Sample selection strategy fit for the research hypothesis

• Evidence that incoming samples can meet administrative and preparation requirements

3. Scientific and translational value of proposed research (40%)

• Novel insights in human genetics and disease mechanisms

• Potential for clinical translation to improve population health

• Novel use cases for long-read sequencing

• Increase adoption of long-read sequencing by local researchers and clinicians

4. Deliverables (30%)

• Potential to generate high value publications, create new knowledge and intellectual property, or develop new or improved solutions and applications

Timelines*

 *The schedule may be subject to change

Please direct all enquiries to PRECISE Programme Managers, Dr Ryan Luo and Dr Kriti Sethi. Please submit completed application form here and email Dr Ryan Luo and Dr Kriti Sethi on the submission by 22 Apr 2024. Late or incomplete application forms will not be entertained.

Resources

• Sample Requirements

• Application Form