Giab roadmap 150820.pptx

1. GIAB Roadmap

2. What should GIAB do?
• Beyond support, improvement/development
and maintenance of existing in-process GIAB
products…
– What future work should GIAB do that would take
advantage of the momentum and unique
community we’ve built?

3. Here are some Roadmap Tracks
• Reference Materials
– Germline
– Somatic
• Informatics
– Analysis of GIAB data
– Benchmarking
• Documentary Standards/Publications
– Documentation of methods
– Supporting Use

4. Reference Materials
Germline
• Pilot RM
• PGP RMs
– AJ and Chinese Trios
– Other ancestries
• Do we need trios?
• Other large families?
• Sample panels
– Many samples with clinically
important mutations
– Pharmacogenomics
Somatic
• Interlaboratory study of
mixtures
• ctDNA/cfDNA/fetal DNA
• Whole cancer genomes

5. Informatics
Analysis Team
• SNP/indels
• SVs
• Phasing
• Assembly
• In depth analyses
– Characterize harder parts of
the genome
– Diploid de novo assemblies
– Assign confidence scores to
variants in RMs
Benchmarking
• Sophisticated/standardized
tools
• Graphical interface
• Stratification

6. Documentary Standards/Publications
Documentation of methods
• Integration methods
–published in 2014
• Analysis Team publications
Supporting use
• Best practices for using RMs
• Documentary standards
• Analytical validation

7. GIAB
Germline Genomes
Pilot RM
High-confidence
SNPs/indels
RM Release
High-confidence
SVs
PGP RMs
High-confidence
SNPs/indels
RM Release
High-confidence
SVs
Other ancestries
Do we need trios?
Other large
families?
Sample panels
Many samples with
clinically important
mutations
Pharmacogenomics
In depth analyses
Characterize
harder parts of the
genome
Diploid de novo
assemblies
Assign confidence
scores to variants
in RMs
Somatic mutation
RMs
Interlaboratory
study
ctDNA/cfDNA/fetal
DNA
Whole cancer
genomes
Benchmarking
tools
Define
performance
metrics
Stratification -
Assign confidence
to types of variants
Documents/Publica
tions
Analyses
Best
practices/analytic
validation
Documentary
standards

8. Pilot
PGP
Benchmarking
Publications
RM DNA
@ NIST
Jan ‘13 Jan ‘14 Jan ‘15 Jan ‘16 Jan ‘17
RM DNA
@ NIST
SNP/indel
calls
Data
From
RM
SNP/
indels
SVs
phasing
NIST RM
released
Initial
SVs
RMs
released
Refined
SVs
SNP/indel
Methods
Nat Biotech
Form
GA4GH
Benchmarking
Timeline
PGP
Integration
PGP
Scientific
Data
3
Public
tools
Make
Tools
Consistent