This document outlines a strategy for developing genomic reference materials (GIAB). It discusses identifying the principles that will guide product development decisions, including the unique value GIAB provides through open access to data, materials and analyses. It addresses how comprehensive a GIAB call set needs to be and what is required to generate a GIAB genome product, such as sequencing and characterization. The document also covers commitments to ongoing maintenance and making improvements, with ambitions for more genomes, somatic references and finished assemblies. The overall goal is to establish a strategic framework for GIAB product development.

1. Product Development
Strategy

2. What are we
talking about
here?
MARKET
RESEARCH
DESIGN PRODUCT
DEVELOPMENT
MANUFACTURING DISSEMINATION MAINTENANCE

3. What are we
talking about
here?
MARKET
RESEARCH
DESIGN

4. What’s it mean
to do Strategy?
Identify the set of principles we’ll apply
to make product development decisions.
• What characteristics of GIAB uniquely
add value to the enterprise?
• How good does a GIAB Genome need
to be?
• What does it take to make a GIAB?
• What do we aspire to?
• What have we missed? Where have we
fallen short?

5. What
characteristics
of GIAB
uniquely add
value?
Reference calls and
materials:
Openly and widely
available:
•DNA and cells
•Data
•Reproducible analyses
Open
public/private/academic
consortium process
Neutral convening
power
Long-term commitment
to availability and
maintenance
NIST-hosted
Global recognition of all
the above!
Regulators
Technology Developers
Clinical Laboratories
Researchers

6. Sample Availability
• Access
• Ethical consent
• Consent for commercial
redistribution
• Provenance
• Material Transfer Agreement
• Materials
• DNA
• Cells
• NIST Product
• iPS lines
• Other cell types
• Derived products

7. How good
does it have
to be:
Who’s Right?
If you compare
your variants
against the GIAB,
GIAB is probably
right.
What do we find
when calls
disagree?
Broken comparator.
You’re wrong.
GIAB is wrong.
Both are wrong.
Unclear who’s right.

8. How good does it have to be:
Does it have what I want?
• How comprehensive does a GIAB call
set need to be?
• How much of the genome?
• What classes of variants?

9. What does it
take to make
a GIAB
genome
product?
How much sequencing?
What types?
What other
characterization?
Do we need families?

10. What’s our
commitment
to
maintenance?
Both GRCh37 and GRCh38 calls and benchmarking
Availability of materials
Availability of data
NIST RMs
Refinement
New call sets

11. What are our
ambitions?
More genomes!
Somatic reference samples
Telomere-to-Telomere Diploid
Assembly
Assembly Benchmarking

12. What’s it mean
to do Strategy?
Identify the set of principles we’ll apply
to make product development decisions.
• What characteristics of GIAB uniquely
add value to the enterprise?
• How good does a GIAB Genome need
to be?
• What does it take to make a GIAB?
• What do we aspire to?
• What have we missed? Where have we
fallen short?