FAIR-i ica ion and Fede a ion wi hin
H3ABioNe and he eLwazi Open Da a
Science Pla o m –Chap e 1
h ps://elwazi.o g/
h ps://dsi-a ica.o g/
Da a Science Wi hou Bo de s webina –2nd
Oc obe 2025
Sumi Panji (as pa o H3ABioNe )
Challenge –Lack o A ican Genomics
da a
h ps://h3a ica.o g/
H3ABioNe and summa y o H3A ica
Da a
Challenges wi h Human genomics da a
H3A ica Da a A chi e
A ailabili y o H3A ica Da a
www.h3abione .o g #h3abione
Ca alogue design
H3ABioNe SAB Mee ing, 3 d –5 h Augus 2020
Bio eposi o y
da a dumps
A chi e da a
dumps
Public access
Regis e ed access
DBAC access
S udies
Da ase s
Pa icipan s
Biospecimens
E hics app o al
POPIA compliance
Secu i y checks
Email igge s
Regis a ions
P ocessing
h ps://ca alog.h3a ica.o g/
FAIR?
Findable, Accessible, In e ope able, Re-usable
h ps://da a.eu opa.eu/doi/10.2777/1524
Why is FAIR impo an ?
Any sugges ions and hough s om he audience?
Why is FAIR impo an ?
h ps://op.eu opa.eu/s/sni
FAIR-ness assessmen o H3A ica Da a
H3A ica da a FAIR Assessmen
H3A ica da a FAIR Assessmen
h ps://ca alog.h3a ica.o g/
H3A ica da a FAIR Assessmen
•100% on he Assessmen o he le el o Essen ial, 76.19% on Assessmen Non-Essen ial wi h
an o e all Assessmen sco e o 87.8%
FAIR Indica o s o H3A ica Da a
FAIR Indica o s o H3A ica Da a
Reuse Licence o Human Genomics da a –
Da a Use On ology
Wha else should be made FAIR?
Any sugges ions / hough s om he audience?
Wha else should be made FAIR in
H3ABioNe ?
H3ABioNe Wo k lows p ojec –FAIR?
h ps://www.h3abione .o g/ ools-and-se ices/wo k lows
H3ABioNe Wo k lows p ojec –FAIR
Conclusions
•Limi ing ac o in genomics is no da a gene a ion, inc easingly mul i-dimensional da a - da a analysis
and in e p e a ion a e bo lenecks
•To apply ools and echniques such as ML, well labelled da a is equi ed
•Cu a ion o da a / good da ase s ewa dship is essen ial owa ds adding alue o da a o enable
indabili y and e-usabili y
•The FAIR landscape has changed om policy discussion o implemen a ion wi h be e me ics and
ools now a ailable o assessing FAIR-ness o di e en esou ces and in as uc u es
•Be e unde s anding and guidance on implemen ing FAIR and i s me ics o a ange o ou pu s now
a ailable
•Skills and knowledge on FAIR gained wi hin H3ABioNe o e his pe iod –mo ing om making ou pu s
FAIR o now c ea ing “bo n-FAIR” ou pu s
•Knowledge, skills and expe ience gained being applied wi hin o he A ican da a heal h esea ch
p ojec s e.g. eLwazi Open Da a Science Pla o m (h ps://elwazi.o g/), as pa o he The Da a Science
o Heal h Disco e y and Inno a ion in A ica (DS-I A ica) Ini ia i e (h ps://dsi-a ica.o g/)
Acknowledgemen s
H3ABioNe is unded by he NIH
Common Fund Awa d / NHGRI
G an Numbe U24HG006941
Ques iuons / Quick Ac i i ies - 5 -10
mins max
Choose 1 o he ac i i ies below o gi e i a quick go:
Ac i i y 1:
•Na iga e o: h ps:// inyu l.com/dswb2025
•Use he Aus alian Resea ch Da a Commons FAIR Da a Sel -Assessmen Tool o ge a quick idea o
how FAIR you da a se is, o wha is needed o make a da ase FAIR
Ac i i y 2:
•Na iga e o: h ps:// inyu l.com/ ai sw
•Follow he ins uc ions o clone he epo and un i on a gi hub p ojec you ha e, wha is missing
acco ding o he ou pu ?
FAIR-i ica ion and Fede a ion wi hin
H3ABioNe and he eLwazi Open Da a
Science Pla o m –Chap e 2
h ps://elwazi.o g/
h ps://dsi-a ica.o g/
Da a Science Wi hou Bo de s webina –2nd
Oc obe 2025
Sumi Panji (as pa o eLwazi ODSP)
NIH DS-I A ica
Ha nessing Da a Science o Heal h Disco e y and Inno a ion in
A ica
Resea ch Hubs: Ad ance and demons a e easibili y o da a
science esea ch and inno a ion o imp o e heal h in A ica
T aining: Inc ease capaci y o da a science esea ch in A ica
ELSI Resea ch: Explo e E hical, Legal, and Social Implica ions o da a
science esea ch om an A ican pe spec i e and con ibu e o
policy discussion on he con inen
Open Da a Science Pla o m & Coo dina ion Cen e : Facili a e he
de elopmen o a ans-A ican ne wo k o da a scien is s
Image and ex ex ac ed om: h ps://common und.nih.go /a icada a
NIH DS-I A ica
h ps://dsi-a ica.o g/ esou ces/in og aphics
eLwazi pa ne s
SUN: de Oli ie a
UCT: Mulde Wi s: Hazelhu s
UMau : Baichoo
UVRI/Make e e:
Kayondo, Djingo
UKa : Fadlemola
USTTB: Doumbia
UCSC: Pa en B oad: Lawson,
Lo e h
UChicago:
G ossman
EBI: Bu de 7 A ican pa ne s
( om
H3ABioNe ), 3
USA, 1 UK
eLwazi aims:
The need we aim o ul il:
•P ojec s ha e mul iple pa ne s and
da ase s
•In eg a ing di e en da a ypes
•Need o ind he da a, iden i y ools, un
analysis
•Need access o s o age and compu e
The solu ion needs o be easible in he
A ican con ex
eLwazi aim: To de elop an A ican
Open Da a Science Pla o m and
associa ed esou ces, o suppo he
Ha nessing Da a Science o Heal h
Disco e y and Inno a ion in A ica
(DS-I A ica) conso ium and beyond
Aims o be a lexible, scalable
pla o m enabling he
implemen a ion o da a science o
heal h, ha is ele an o he A ican
con ex
How we suppo he DS-I A ica conso ium
•S o ing da a, including e e ence da ase s
•Se ing me ada a
•De eloping da a models
•Da a managemen , cleaning, QC
•Da a ha moniza ion
Da a
•Make so wa e s ack a ailable
•De eloping/adap ing new ools
•Building con aine ized wo k lows
•Cus omizing o compu ing en i onmen
Tools
•Making componen s a ailable on mul iple
en i onmen s
•Easing access o compu ing acili ies
•Ensu ing secu i y is in place as equi ed
Compu ing
•Cu iculum de elopmen
•Hos ing aining ma e ials
•T aining on da a science me hods
•T aining on eLwazi pla o m
T aining
Da a po als
Me ada a ca alogue
REDCap suppo
Hos ing p o ocols,
SOPs, guidelines
Helpdesk
Use suppo g oups
Da a wo king g oups
FAIRPlus Da a Se Ma u i y Model
h ps:// ai plus.gi hub.io/Da a-Ma u i y
•Con en - ela ed: Wha is epo ed in he Da ase
(da a) & he Da ase Desc ip o (me ada a).
•Rep esen a ion and o ma : How he da a objec
& me ada a objec a e ep esen ed and o ma ed.
•Hos ing en i onmen capabili ies: Wha
capabili ies o he hos ing en i onmen ha enables
and suppo s he use o FAIR da a.
eLwazi Da a Jambo ee 2023
31 A endees om 9 esea ch hubs
/ p ojec s joined o he week.
Focused on:
1. In oduc ion o FAIRi ica ion
esou ces
•FAIRPlus
•RDA F amewo k
•Da a Use On ology
2. B ains o ming Me ada a Da a
Ca alogue, Ini ial Design
3. Explo e solu ions o common
ha monisa ion challenges
h ps://elwazi.o g/ ainings/24
eLwazi Da a Jambo ee 2024
39 A endees om 19 esea ch
hubs / p ojec s joined o he
week. Focused on:
1. Examined FAIRi ica ion Jou ney
•FAIRi ica ion F amewo k
•FAIRcookbook
2. Enabling g ea e isibili y o all DS-
I A ica da ase s and os e ing o
collabo a ions ia he Me ada a
Ca alogue
3. Engaged wi h eal ools in Da a
Ha monisa ion
h ps://elwazi.o g/ ainings/29
FAIR-i ica ion ac oss DS-I A ica
Nex Jambo ee –Feb ua y 2026
Focus on:
1. Re iewing FAIR p og ess o e he
las 3 yea s
2. Iden i y and p omo e end- o-end
use cases
3. Ad ancing me ada a ca alogue
ea u es
In he mean ime, eLwazi
solu ions o FAIRi ica ion:
a. Me ada a Ca alogue (F, A, R)
b. Suppo & Fu he De elopmen o
Me ada a Ha monisa ion Tool
(de eloped by HE2AT) (I, R)
c. Da a T ans o ma ion Tool (I, R)
eLwazi Me ada a Ca alogue
h ps://ca alog.elwazi.o g/#/da ase s
Challenge
h ps://www.da alaw.a ica/law/sea ch_compa e/
eLwazi ODSP In as uc u e WG
In e ope abili y and S anda ds
Enable in e na ional da a sha ing
P omo e sha ing ac oss he
ansla ional con inuum
Encou age echnology-enabled
ede a ed app oaches
P omo e in e ope abili y
GA4GH aims o...
Build s anda ds and APIs o enable
esponsible sha ing o da a o
heal h bene i s
Add essing he ac ha da ase s
may o may no be able o mo e
S anda ds, ools and APIs
acili a e inding da a and ools
and execu ing analysis in mul iple
compu ing en i onmen s
Image c edi s: h ps://www.ga4gh.o g/news_i em/ga4gh-s anda ds-in-a-global-lea ning-
heal h-sys em/
GA4GH Da a Reposi o y Se ice
•P o ides a
s anda dised se o
da a access me hods
ha a e agnos ic o
cloud in as uc u e
•Allows o da a
access ega dless o
s o age loca ion o
how he da a is
managed
Image c edi : h ps://www.ga4gh.o g/p oduc /da a- eposi o y-se ice-d s/
GA4GH Da a Connec
•Wo ks wi h any da a
ha can be se ialised
as an a ay o JSON
objec s
•Suppo s ede a ion
•Can be implemen ed
ac oss a la ge a ie y
o da a s o es
Image c edi : h ps://www.ga4gh.o g/p oduc /da a-connec /
eLwazi ODSP ollow-up GA4GH 2025 hacka hon
•Inclusi e, collabo a i e discussions and planning by eLwazi esea ch so wa e enginee s,
pa ne s om he GA4GH communi y, DNAS ack and Gen3 eams
4 s eams de ined o he eLwazi ODSP GA4GH 2025 ollow-up hacka hon:
•S eam 1 –eLwazi ODSP Ca alogue, DNAS ack and Publishe / Explo e and Da a Connec
in eg a ion
•S eam 2 - Iden i y gaps o in eg a ion wi h DNAS ack and Gen3 and Ili u on p em
(a ound wo kbench)
•S eam 3 - Case s udies
•S eam 4 –Implemen a ion o GA4GH s anda ds in TREs
eLwazi ODSP ollow-up GA4GH 2025 hacka hon
eLwazi ODSP ollow-up GA4GH 2025 hacka hon
#eLwaziHacka hon2025
eLwazi ODSP in eg a ion wi h DNAS ack
h ps://elwazi.omics.ai/collec ions
Pu ing i oge he
Cloud & HPC En i onmen s
Azu e, GCP, AWS and Local
•DRS o da a access
•WES o compu e
•TRS o wo k low sha ing
•Wo kspaces
Docks o e
Me hods
Po al & Da a
Ca alog
Wo kspaces
Local
Compu e and
S o age
Nodes
AWS Azu e
Global con ex
h ps://heal hwise-conso ium.o g/
•Uni e si y o Cape Town, PI Nicky Mulde
•Uni e si y o he Wi wa e s and, PI Sco Hazelhu s
•Uni e si y o he Wes e n Cape/Ili u, PIs Ma ia
Vacca i, Rob Simmonds, Russ Taylo
•Uni e si y o S ellenbosch, PI Tulio de Oli ie a
•Uni e si y o Mau i ius, PI Shakun ala Baichoo
•Uganda Vi us Resea ch Ins i u e, PIs Jona han
Kayondo, Daudi Jjingo
•Uni e si y o Kha oum, PI Faisal Fadlemola
•USTTB, Uni e si y o Bamako, PI Seydou Doumbia
•B oad Ins i u e, PIs Jona han Lawson, Ch is ine
Lo e h
•EMBL Eu opean Bioin o ma ics Ins i u e, PI Tony
Bu de
•Uni e si y o Cali o nia, San a C uz, PI Benedic
Pa en
•Uni e si y o Chicago, PI Robe G ossman
Acknowledgemen s
NIH DS-I A ica p og am, G an U2CEB032224
