apidays Australia 2023 - Platforms, Products, and People: The Power of APIs October 11 & 12, 2023 https://www.apidays.global/australia/ The Power of APIs in Genomic Research Dr. Adrien Oliva, Ph.D, Post-Doc in Multi-Cloud Genomic Research at CSIRO ------ Check out our conferences at https://www.apidays.global/ Do you want to sponsor or talk at one of our conferences? https://apidays.typeform.com/to/ILJeAaV8 Learn more on APIscene, the global media made by the community for the community: https://www.apiscene.io Explore the API ecosystem with the API Landscape: https://apilandscape.apiscene.io/

1. Australia’s National Science Agency
Cloud-based bioinformatics
The Power of APIs in Genomic Research
Dr. Adrien Oliva, Oct 2023

3. Australia’s largest digital health program
• Powers Australia’s and England’s
clinical terminology service.
• First clinically validated mobile
APP for heart rehabilitation.
3 | The power of APIs in Genomic Research| @Tbioinf

4. 4 | The power of APIs in Genomic Research| @Tbioinf
LIFE

5. APIs accelerate health | @allPowerde @Tbioinf
5 | The power of APIs in Genomic Research| @Tbioinf
5 |

6. Genomics helped track
COVID-19 outbreak
6 |
but requires
• secure, federated data
management
• real-time analytics.
The power of APIs in Genomic Research| @Tbioinf

7. 20 EB Storage / year
Stephens et al. BigData: Astronomical or Genomical (2015)
Genomics
YouTube
Astronomy
Twitter
The power of APIs in Genomic Research| @Tbioinf
7 |
1 EB = 1,024 PB or 1,048,576 TB
YouTube estimated all time storage = 2 EB

8. Creating Trust
with appropriate
evolving consents
Secure data
exchange
to empower innovation
via collaboration
APIs in Genomic Research
Analyse data
to advance clinical
genomics
8 | The power of APIs in Genomic Research| @Tbioinf

9. Creating Trust
with appropriate
evolving consents
Secure data
exchange
to empower innovation
via collaboration
APIs in Genomic Research
Analyse data
to advance clinical
genomics
9 | The power of APIs in Genomic Research| @Tbioinf

10. VariantSpark
10 |
• Machine Learning Framework for genomic data
• Associate mutations with a traits
The power of APIs in Genomic Research| @Tbioinf

11. cases
controls
Gene1 Gene2
A B C
Detect up to 4 SNP
interactions
Smarter
11 | The power of APIs in Genomic Research| @Tbioinf Bayat, Scientific Report, 2021
Bayat, GigaScience, 2020

12. 12 |
Distributions
The power of APIs in Genomic Research| @Tbioinf

13. Analyzes 1 trillion
datapoints in 15h (other
tech 100,000 years)
Faster
Used
by
Chromosome
On all major cloud
providers
Available
The power of APIs in Genomic Research| @Tbioinf
13 |

14. Creating Trust
with appropriate
evolving consents
Secure data
exchange
to empower innovation
via collaboration
APIs in Genomic Research
Analyse data
to advance clinical
genomics
14 | The power of APIs in Genomic Research| @Tbioinf

15. 15 |
Data copies everywhere,
Losing Data ownership
Individual owners Centralised Organisation owned
Too much power, security
concerns, Blanket consents
The power of APIs in Genomic Research| @Tbioinf

16. Secure
Newborn screening
16 | The power of APIs in Genomic Research| @Tbioinf
Consent Transparent
Auditable
Data Sovereignty
PATIENT

17. Dynamic Consent Protocol
17 | The power of APIs in Genomic Research| @Tbioinf

18. Dynamic Consent Protocol
18 | The power of APIs in Genomic Research| @Tbioinf

19. Dynamic Consent Protocol
19 | The power of APIs in Genomic Research| @Tbioinf

20. 20 | The power of APIs in Genomic Research| @Tbioinf

21. Dynamic Consent Protocol
21 | The power of APIs in Genomic Research| @Tbioinf

22. Dynamic Consent Protocol
22 | The power of APIs in Genomic Research| @Tbioinf

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24. Dynamic Consent Protocol
24 | The power of APIs in Genomic Research| @Tbioinf

25. Dynamic Consent Protocol
25 | The power of APIs in Genomic Research| @Tbioinf

26. Dynamic Consent Protocol
26 |
Power to the patient
The power of APIs in Genomic Research| @Tbioinf

27. Creating Trust
with appropriate
evolving consents
Secure data
exchange
to empower innovation
via collaboration
APIs in Genomic Research
Analyse data
to advance clinical
genomics
27 | The power of APIs in Genomic Research| @Tbioinf

28. 28 | The power of APIs in Genomic Research| @Tbioinf Source: https://beacon-project.io

29. Exchanging genomic data cloud-natively
29 |
Partners
Serve a query in 1s and
update data in 20s
(1800 times faster)
Faster
Zero idle costs
Cheaper
Scalable
Scale up to 3 billion
genomic locations and 40
million individuals
The power of APIs in Genomic Research| @Tbioinf

30. 30 |
Beacon V2 compliant
The power of APIs in Genomic Research| @Tbioinf

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32. 1. Connect the data to the analytics:
VariantSpark and BitEpi – finding disease genes, to
treat and even prevent disease.
2. Give data sovereignty and power back to the patient
Dynamic Consent Protocol – Creating trust with
evolving consent management.
3. Secure data exchange to empower innovation via
collaboration:
sBeacon – Enable safe global data sharing for federated
genomic discoveries.
Three things to remember
32 | The power of APIs in Genomic Research| @Tbioinf

33. Australia’s National Science Agency
CSIRO Health and Biosecurity
Adrien.Oliva@csiro.au
Let’s work together
Visit our site:
https://bioinformatics.csiro.au
@Tbioinf