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1 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Quanam	&	GenLives	Customer	
Webinar
Interpretation	tool	for	Genomic	Sequencing	
Data	in	Clinical	Environments
2 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
• Introduction
• Mission:	Genlives	and	Quanam
• Background
• MyATGC	Objectives
• MyATGC	Challenges
• MyATGC	Technology	Stack
• Conversational	Interface	
• MyATGC	Business	Value	(Results	and	Metrics)
• MyATGC	Vision	for	Future
• Questions	and	Answers
Webinar	Agenda
3 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Healthcare	Data	Sources	in	the	Connected	Digital	World…
Actionable	Intelligence	Makes	Healthcare	Precise	and	Personal
Patient	
Records
Lab	Data	
Pharmacy	
Data	
Patient	
Location
Wearables
Cyber	Threat	
Metadata
Clinical	(EMR)	
Data
Social	Media
Patient	
Satisfaction	Data	
Physician	
Notes
Claims	
Data	
Sensor	Data	
Intra-
Network	
Data
Call	
Transcripts
SINGLE	VIEW	OF	PATIENT REAL-TIME	VITAL	SIGN	
MONITORING
BILLING	&	REIMBURSEMENTS EMR	OPTIMIZATION SUPPLY	CHAIN	
OPTIMIZATION
4 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Technology advances are making it possible for physicians to leverage
data and analytics like never before
Providers can make a health optimization recommendation to you based on…
• The latest clinical trials
• Your genomic makeup and family history
• The local, regional, national & International data about patients just like you
• The real-world health outcomes over time of every patient like you
• the level of your interest and ability to engage in your own care
They can then tell you within a specified range of confidence, which treatment has the
greatest chance of success for you.
5 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
To	do	this	requires	looking	at	one’s	data	sources	to	understand	data	
and	analytics	technologies	help	overcome	data	complexities	BatchReal-time
Data	velocity
Dimensional/Structured Behavioral/Unstructured
Data	variety
Semi-structured
Environmental	
data Electronic	medical	
records
Patient	monitoring	sensors:		heart,	
oxygen,	breathing,	brain,	etc.
Lab	slides
Physicians‘	notes
Lab	notes
Medical	bills
Physician‘s	patient	
transcriptions
Wave	form	processors	
(EKG,	EEG)
Public	health	
information
TPA	invoices
Industry	coding
Admin	systems	(resource	
utilization,	HR,	etc.)
Insurance	claim	forms
Forms	and	
letters
Insurance	claim
Financial	data	(billing,	insurer	fee	
schedules,	etc.)
Laboratory	results
3rd	party	data
Lab	tests
Source:	Hortonworks	Innovation	and	Strategy	Team	Analysis,	Hortonworks	Industry	Solutions	Team	Analysis
Possible	with	EDW	Itself
Possible	with	EDW	plus	
Surrounding	Systems
Possible	with	Hortonworks’	
Connected	Data	Platforms
Patient	ProfilesPopulation	data
6 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Lucia Spangenberg
Genlives Director, Posdoc
at Pasteur Institut
Montevideo
- Helped	develop	telemedicine	
platform	to	enable	medical	doctors	the	
use	of	genomic	medicine.
- PhD	in	Computational	Biology,	BS	and	
MS	in	Bioinformatics
- Urugenomes	-Uruguayan	genome	
project- CTO
Webinar	Presenters
Fernando Lopez Bello
Business Analytics/Big Data,
Quanam
-Big	Data	and	Cognitive	Computing	practice	
leader.	Applications	specialist,	having	played	
management,	coaching	and	senior	architect	
roles.
-Experience	in	project	implementations	across	
many	different	different	infrastructures	and	
development	frameworks.
- Bioinformatics	master’s	degree	student.
Diana	Yanez-Pastor
Marketing	Director,	
Customer		Programs	
Hortonworks
Cindy	Maike
VP	Industry	
Solutions	&	GM	–
Insurance	and	
Healthcare	
Hortonworks
7 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
• Incubated	at	Institut	Pasteur	de	Montevideo	since	2015
• Team
• CEO	PhD.	Lucía	Spangenberg
• CSO	Dr.	Med.	Victor	Raggio
• CFO	Eng.	Eduardo	Spangenberg
• CTO	Eng.	Juan	Pablo	Banchero	
• Mission:	to	democratize	access	to	genomic	medicine	by	promoting	preventive	and	
diagnostics	medicine
Genlives
Mission:	Genlives	and	Quanam
8 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
• An	Information	Technology	Company	with	40	years	of	Knowledge	and	Experience
Specializing	in	consulting	and	management	professional	services	and	world	class	products.
• 40	years	in	business	
• +400	employees	
• 7	offices	in	Americas
• +600	Customers	in	26	countries	of	America	and	Europe
• Business	Analytics
• +80	consultants
• expertise	range	from	traditional	BI	through	Big	Data,	including	Planning	and	Data	Mining
• projects	in	the	Americas	and	Europe
• Big	Data	&	Cognitive	Computing	Team
• Mission:	to	enable	customer	business	use	cases	grow	in	scale	and	complexity
• Implementations	for	several	industries	
Quanam
Mission:	Genlives	and	Quanam
9 ©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Diagnosis	and	Prevention
Background
1
0
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
• better,	faster	and	cheaper	DNA	
sequencing	since	2005
• is	now	being	applied	to	many	fields,	
including	human	genomics,	e.g.	
precision	medicine
• huge	amounts	of	data	are	being	
generated	(~300GB	human	genome)	
• algorithms	to	handle	these	data	are	
currently	being	developed
Next	Generation	Sequencing
Background
1
1
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Data	Analysis
Background
Pathogenic
Probably pathogenic
Probably benign
Benign
Uncertain significance
?
1
2
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
• Several	genetic	references	databases
• ClinVar,	OMIM,	dbSNP	-to	mention	a	few
• Daily	stream	of	genetics	related	abstracts
• ~300/day	only	counting	PubMed
• Terminology	standardization	efforts
• Snomed	CT	Ontology,	localized	for	several	countries
Databases	and	Literature	Sources
Background
1
3
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Idea	conceived	at	ICT4V,	and	supported	by	ANII
• Develop	a	tool	that	assists	in	the	clinical	classification	of	genomic	variants
• Assist	in	the	determination	of	clinical	significance	using	machine	learning	approaches	
and	Natural	Language	Processing	tools
• Develop	visualizations	that	allows	clinical	geneticist	to	make	informed	and	robust	
decisions	on	pathogenicity	of	variants.
Objectives
MyATGC
1
4
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
•The	genome	of	each	person	has	in	average	of	~4	million	mutations.	The	majority	of	
them	have	no	clinical	relevance.	Finding	relevant	mutations	is	not	a	trivial	task.
•Millions	of	academic	papers	and	clinical	resources	(doubles	every	year)	demand	specific	
geneticist	physician	attention.
Challenges
MyATGC
1
5
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Technology	Stack
MyATGC
1
6
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Variant	Pathogenicity	Calculation
1
7
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
1
8
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Literature	Search
1
9
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
2
0
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Conversational	Interface
2
1
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
• ~5	years	from	symptoms	to	diagnosis
• 30%	children	won’t	live	to	see	their	5th	birthday																									
• Patients	visits	~7	specialists	before	getting	a	diagnosis
Rare	diseases
MyATGC	Business	Value	(Results/Metrics)	
Prevention
• Detect	predisposition	to	diseases	to	improve	prevention
• Save	costs	to	health	care	system
In	Both	Cases
• Interpretation	of	variants:	from	several	days	to	1	hour
5 yrs 2 m
2 d 1 hr
2
2
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
• Now	working	with	first	prospects
• Regionalization	to	Latam
• Leverage	new	HDP	&	HDF	developments
• Data	governance																						
• Extended	data	ingestion
MyATGC	Vision	for	Future
2
3
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
DATAPLANE	SERVICE	(DPS)
MANAGE,	GOVERN,	SECURE
DATA
LIFECYCLE
MANAGER
DATA	STEWARD
STUDIO*
ISV
SERVICES
*not	yet	available,	coming	soon
EXTENSIBLE	SERVICES
IBM	DSX*CLOUD-
BREAK*
DATA
ANALYTICS
STUDIO*
CONNECTED	DATA	PLATFORMS
HORTONWORKS
DATA	PLATFORM	(HDP®)	DATA-
AT-REST
HORTONWORKS
DATAFLOW	(HDF™)
DATA-IN-MOTION
MODERN	DATA	USE	CASES
HORTONWORKS
CONNECTION
ENTERPRISE	SUPPORT
PREMIER	SUPPORT
EDUCATIONAL	SERVICES
PROFESSIONAL	SERVICES
COMMUNITY	CONNECTION
HORTONWORKS
PLATFORM	SERVICES
OPERATIONAL	SERVICES
SMARTSENSE™
Hortonworks	Delivers	Global	Data	Management	for	the	Healthcare	Industry
DATA	
SOURCES
DATA	CENTER CLOUD EDGE
Clinical	 Data
360	View	of	
Patient
Physician’s	
Notes
Public	Health	
Data
Medical	
Research
Patient	
Vitals
PATIENT	CARE
ELECTROJIC	
MEDICAL	RECORDS
CLAIMS	
MANAGEMENT
POPULATION	
HEALTH
PRECISION	
MEDICINE
2
4
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Question	and	Answer	
Session
2
5
©	Hortonworks	Inc.	2011–2018.	All	rights	reserved
Thank	You

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