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Transforming Lives Through Genomics

1 © Copyright 2021 Mapmygenome


About Mapmygenome

2 © Copyright 2021 Mapmygenome


About Us
Mapmygenome is a genomics company that leverages state of the art molecular assays like RT
PCR, Genotyping,Sequencing and BioIT Services. We perform DNA tests which screen for genetic
predisposition and diagnose complex genetic disorders. The two main labs that Mapmygenome
are located at Madhapur and at the Hyderabad International Airport. The company is founded and
funded by some of the most successful serial entrepreneurs and investors with a vision to impact
100 million lives by 2025.The current team size is >200 employees across 4 cities across India.

Mapmygenome has carved out a niche for itself. Mapmygenome is backed by 21 years of
experience in genomics, and stems from Ocimum Biosolutions.

We offer personalized health solutions based on genetic tests that help people lead healthier lives.

3 © Copyright 2021 Mapmygenome


Products and Services
Mapmygenome offers the following products and services directly to consumers and in collaboration with clinicians, Hospitals
and Research Institutions across India and various parts of the world. We have been Serving Premier Institutions across the globe:

● Covid related Testing ( RT PCR, Antibody, Serology etc). 2 labs including one at Hyderabad International Airport
● Personal genomics products
● Diagnostic tests for non-infectious diseases for Oncology, Gynecology, Pediatrics etc
● Genetic counselling services
● Diagnostic kits for Tuberculosis and other infectious diseases
● Research services
● BioIT: LIMS and Bioinformatics including reporting services.

4 © Copyright 2021 Mapmygenome


As an NABL LAB supporting COVID Pandemic

● Mapmygenome India Ltd is first NABL accredited on 21st Aug 2017 for SNP Genotyping of SNP -
rs1815739 on ACTN3 Gene.

● Mapmygenome NABL renewed in 2019 for ACTN3

● Mapmygenome had scope extension for Viral RNA testing by RT-PCR (HIV RNA Qualitative) on
29th May 2020.

● Mapmygenome tested and reported many thousands of COVID samples and supported the Govt of
Telangana in many fronts in the Global Pandemic

● Mapmygenome is working closely with CCMB an ICMR referral Lab for COVID sequencing for
variant Identification

5 © Copyright 2021 Mapmygenome


Key Offerings- Personal Genomics
Genomepatri™ predicts genetic risk for 100+ diseases, traits, drug responses,
inherited conditions, and carrier status.

MyFitGene predicts key attributes


MedicaMap predicts an
of cardio-respiratory fitness,
individual’s response and
adverse reactions (if any) to
muscle strength, body Genomepatri™ Heritage is a DNA ancestry
composition, dietary restrictions
100+ drugs across multiple product
and psychological aspects to
disease areas.
support individuals achieve their
fitness goals.

6 © Copyright 2021 Mapmygenome


Report format

7 © Copyright 2021 Mapmygenome


Products and Services - Diagnostics (non-infectious disease)
Whole Genome Sequencing (WGS)
WGS analyzes the complete human genome on NGS Illumina (Novaseq 6000), with 30X coverage. MapMyGenome follows American College
of Medical Genetics guidelines to report the findings of the test. Following insights are derived from the WGS test at MMG:
● Diagnosis and confirmation of many complex diseases by the analysis of disease causing variants in coding and non-coding
regions of the DNA
● Pharmacogenomic profile
● Carrier status for number of genetic conditions

Mapmygenome Exome Sequencing (Whole Exome Sequencing or WES)


WES analyzes all protein coding regions (~21000 genes) of the genome called exome, on NGS Illumina (Novaseq 6000), with 70-100X average
coverage. WES is routinely performed to support the diagnosis of complex multi-gene syndromes and disorders.

MatchmygenomeTM - Comprehensive Couple Carrier Screening - provides information regarding both partners’ reproductive risks and how they
may impact their future.

Single-gene and multi-gene panels (for rare and inherited diseases)

Single and multi-gene tests target a handful of genes or variants associated with a certain condition. These tests are performed using Sanger or
Next Generation Sequencing, depending on the number of genes to be tested.

CMA ( Chromosomal Microarray) : Testing for developmental delays, autism spectrum etc during prenatal or after birth.

8 © Copyright 2021 Mapmygenome


Products and Services - Tuberculosis kits

Mapmygenome offers CE-certified Spoligo-TB kits for TB detection and typing are a simple, inexpensive and effective tool
for Mycobacterium Tuberculosis diagnostics and research. In the spoligotyping method, the entire DR locus is amplified by
PCR, using two inversely oriented primers complementary to the sequence of short DRs.
The PCR products, of different sizes, are hybridized to a membrane with 43 covalently bound synthetic oligonucleotides
representing the polymorphic spacers identified in M. tuberculosis and M. bovis BCG.
The hybridization signals are detected by chemiluminescence through biotin labeling of the PCR products (one of the
primers is biotinylated) and a streptavidin-peroxidase conjugate system and then visualized by autoradiography. Individual
strains are differentiated by the number of the spacers missing from the complete set.

9 © Copyright 2021 Mapmygenome


Products and Services - Genetic Counseling

Genetic counselling is a specialized branch of medicine that helps individuals, couples and families identify their genetic
risks, choose appropriate tests and understand the implications of the test results. Mapmygenome has a highly experience
team of counsellors with years of clinical experience that supports customers in identifying disease-risk based on family
medical history, identification of appropriate genetic tests, interpretation and implication of test results, recommendations
based on established guidelines, etc.

Our counsellors are much sought after experts in the medical community to host educational seminars and awareness
sessions for corporates, diagnostic companies, clinics and healthcare institutions on topics ranging from personal genomics
to onco-genetics.

At Mapmygenome, each prognostic and diagnostic product includes a private genetic counsellor session with an expert
followed by a detailed recommendation report.

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0 © Copyright 2021 Mapmygenome
BioIT: Products and Services

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Bioinformatics and Reporting
● Databases like BioExpress, ToxExpress and Ascenta
● Data analysis from Microarray & Sequencing (WES/WGS)
● Pipelines for Predictive genetic reports, Chromosomal Microarray
Analysis (CMA), Variant calling from WES/WGS, Clinical reports,
Ethnicity composition, Drug responses
● Automated report generation for in-house products (Genomepatri,
Medicamap, MyFitGene, MyNutriGene)
● Customization of the products as per client requirements
● Reporting with Raw data for consumer genomics and NGS data
● Research on Personal genomics, COVID-19

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2 © Copyright 2021 Mapmygenome
BioExpress System
Therapeutic Distribution

BioExpress® System

Program Sample #

Inflammation 3584

Central Nervous 6491

CardioVascular 1839
•Diabetic
Oncology 4131 •Obesity
•Metabolic Syndrome
Metabolic 1034

Normal 4214

Other 800 •Lupus


•Asthma & COPD
Total 22093 •Rheumatoid Arthritis
•Inflammatory Bowel Disease
•Immune Cells

•Depression
•Cardiomyopathy
•Schizophrenia
•Coronary Heart Disease
•Alzheimer’s Disease
•Atherosclerosis
•Parkinson’s Disease
•Hypertension

Confidential
© Copyright 2021 Mapmygenome
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Biomarker Discovery Platform -ASCENTA®

Disease and Normal Tissue Sample Sets


• Over 8,700 samples
-Human Tissue
-Animal Models
• Biological replicates
• QC by pathologists
• Major Therapeutic areas

Industry Standard Microarray Gene Expression Data


• Affymetrix GeneChip®
• Multiple QC steps
• Summarized Reports

Browser-based Format
• Custom e-NorthernTM report
• In-depth Analysis
• Pathways
• Gene Families
• Pathology reports

14 © Copyright 2021 Mapmygenome


Literature mining Exome-seq Data

Statistical Analysis

NGS data Analysis MetaGenomic Data NGS Data RNA-seq Data


Analysis
Array based data
Analysis

Epigenomic Data
Bio Analytics

DATANGSANALYSIS
and Array Analysis
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SNP Genotyping Array Analysis
• Data Types (CEL/CHP, TXT) • QC report with visualizations and
• Experimental Design metrics
✓ Number of samples • Copy number variations- Segments
✓ Sample/Treatment of copy number change along with
Information ✓ Copy number state
• Experimental objective (gain/loss)
✓ Chromosome position,
SNP/Gene
• Quality Assessment through QC call rate, per sample • Association studies – List of SNPs
genotype call rate, concordance in replicates etc. associated with disease/condition,
• Association studies (Case-Control and Family based) along with FDR corrected p-values
• Copy number variation studies and annotations
• Visualizations • Gene Ontology and Pathway
• Gene Ontology and Pathway analysis reports
• Detailed report with information
on methodologies used in analysis

16 © Copyright 2021 Mapmygenome


SNP Genotyping Array – Personalized Genomics
➢Database with SNPs associated with various conditions (Diseases, Traits and Drugs)
➢Algorithms that can predict an individual’s genetic risk associated with various conditions
MMG ➢Comprehensive report detailing- genetic risk, disease characteristics, genetic and environmental risk
PROCESS factors associated with the disease

Disease SNP Chr Loci OR Reference Hetero Risk Freq_Ref Freq_Het Freq_Risk Population GeneSymbol
AMD rs1329428 1 1.97E+08 2.78 AA AG GG 0.179 0.491 0.33 CEU CFH
AMD rs429608 6 31930462 2.16 AA AG GG 0.018 0.248 0.735 CEU SKIV2L
AMD rs10490924 10 1.24E+08 2.94 CC AC AA 0.611 0.381 0.009 CEU ARMS2
Prostatecancer rs6983267 8 1.28E+08 1.2 AA AC CC 0.239 0.549 0.212 CEU SRRM1P1-POU5F1B
Prostatecancer rs10993994 10 51549496 1.18 GG AG AA 0.442 0.434 0.124 CEU MSMB
Prostatecancer rs7501939 17 36101156 1.19 AA AG GG 0.15 0.566 0.283 CEU HNF1B
Prostatecancer rs10486567 7 27976563 1.12 AA AG GG 0.071 0.354 0.575 CEU JAZF1
Prostatecancer rs4430796 17 36098040 1.22 AA AG GG 0.212 0.593 0.195 CEU HNF1B/TCF2
Prostatecancer rs1859962 17 69108753 1.27 AA AC CC 0.239 0.575 0.186 CEU CALM2P1-SOX9

17 © Copyright 2021 Mapmygenome


Whole genome / exome sequencing

• FASTQ / BAM files


• List of targets or regions of Customer Deliverables
interest
INPUT OUTPUT
• Sample information
• Objective of the study MMG
• Read quality assessment report
PROCESS • Mapping statistics
• Variant calls in vcf format
• Sample/gene/exons /regions of interest based
• Quality assessment and enhancement DoC report
• Alignment of reads • Annotation & Classification report
• Base Quality score recalibration (synonymous, Non-synonymous, Indels etc.)
• Variant calling and Annotation based on SNPEff, dbNSFP
• Depth of Coverage (DoC) analysis • Impact of novel variants based on statistical
scores (SIFT, LRT, MutationAssessor etc.)
• Detailed report including methodology,
publication ready graphs and results in
spreadsheets

18 © Copyright 2021 Mapmygenome


Covid Testing
● RT PCR - Gold standard in Testing with ICMR/ CDC approved primers
and probes. Mapmygenome operates two labs including one at the
Hyderabad International Airport.
● Rapid Antigen and Antibody tests including ELISA and CLIA
● Inflammatory Blood markers
● Antibody testing
● All our testing is barcoded and samples processed using state of the art
Lab Information system reducing any human errors.
● QR code on reports

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9 © Copyright 2021 Mapmygenome
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0 © Copyright 2021 Mapmygenome
Research Services
Mapmygenome offers a range of contract research services for academic centers and pharmaceutical companies across the
world. These services include large projects such as identification of novel mutations in patient cohort and or specific tasks
such as differential gene expression analysis to understand the significantly perturbed biological pathways in a complex
disease.

We have been Serving :


● Imperial College London (UK)
● Diabetes Foundation of India - DFI (India)
● Medical Research Council (Zambia)
● Pasteur Institute (Across Globe)
● Boston Medical Center ( MA, USA )
● John Hopkins School of Medicine (USA)
● All India Institute of Medical Sciences (India)
● GSK, Pfizer, Amgen, Novartis and other Pharma companies
● G42, Abu Dhabi

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1 © Copyright 2021 Mapmygenome
IP and Publications
Mapmygenome has developed and patented in-house algorithm (SNaPpy) to assess disease risk based on genetic data for its
prognostic product range.
Additionally, it has published several research papers in reputed journals.
Below are a few examples:
1. Impact of Human Exome Sequencing on Clinical Research: Book Chapter
2. Mycobacterioses in dogs and cats from Buenos Aires, Argentina
3. Exploring drug-resistant tuberculosis profiles within the West Coast, South Africa
4. Past, present, and future of molecular oncology in India
5. Prevalence rates of ADIPOQ polymorphisms in Indian population
6. Prevalence of SARS-CoV-2 in Karnataka, India: JAMA
7. Comprehensive analysis of WGS and RNA-seq data to identify genetic variations in a patient with clear
cell renal carcinoma
8. A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation

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2 © Copyright 2021 Mapmygenome
Publications/Citations

More than 1000 publications cite GeneLogic/Ocimum/Isogen/MWG/Mapmygenome

➢WIP1 phosphatase as a potential therapeutic target in Neuroblastoma.


Collaboration with - GSK
PLOS one;Febr6, 2015. DOI: 10.1371/journal.pone.0115635
This study describes that inhibition of Wip1 phosphatase with a selective antagonist, GSK2830371 can be used as a potential approach to treat neuroblastoma.
By attenuation of neuroblastoma cell growth through reactivation of p53 mediated tumor suppression.

➢EZH2 inhibition as a therapeutic strategy for lymphoma with EZH2-activating mutations.


Collaboration with – GSK
Nature(2012).doi:10.1038/nature11606
Demonstrated that GSK126, a potent, highly selective, small molecule inhibitor of EZH2 methyltransferase activity, decreases global H3K27me3 levels and
reactivates silenced PRC2 target genes. This study demonstrates that pharmacological inhibition of EZH2 activity may provide a promising treatment for EZH2
mutant lymphoma.

➢Genome Wide Expression Analysis Suggests Perturbation of Vascular Homeostasis during High Altitude Pulmonary Edema.
Performed global gene expression profiling in individuals with established HAPE compared to acclimatized individuals. Our data suggests concurrent modulation
of multiple pathways which regulate vascular homeostasis and consequently lung fluid dynamics.

➢Polymorphism in RD1 locus and its effect on downstream genes among South Indian clinical isolates of M.Tuberculosis.
We found a polymorphic intergenic region between two genes rv3870 and rv3871 in RD1 region (the region of difference between the virulent strains of
Mycobacterium tuberculosis, and Mycobacterium bovis BCG). Sequence analysis revealed a 53 base pair repeat element which creates polymorphism among the
clinical isolates reported earlier as MIRU 39. The discriminatory power of this locus was found to be high for EAI strains as indicated by Hunter Gaston Diversity
Index of 0.58 and low for Beijing (0.26) and CAS (0.29)
© strains.
Copyright 2021 Mapmygenome
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Accreditations and Quality Standards
The team at Mapmygenome has experience collaborating with and offering services to reputed global research
centers and companies that demands highest quality standards. Some features include:

● Secure LIMS to manage and track logistics and lab operations. This makes our lab compatible with GxP, 21
CFR Part 11, ISO guidelines that govern laboratory standards.
● Adherence to safety and sample management standards.
● Our Spoligo-TB kits have CE Certified-IVD mark (in vitro diagnostic kits) and are sold across the globe.
● Our genetic counsellors are board (BGCI) certified and highly qualified.
● NABL for genetic testing and Viral RNA tests
● PCPNDT for prenatal testing and counseling
● ISO 9001:2000
● HIPAA compliance

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4 © Copyright 2021 Mapmygenome
Selected Awards and Honors
Mapmygenome has been recognized for number of awards and honors for its contributions in the industry and society.
Some of the awards include:

● Winner at Red Herring Top 100 Asia and finalist at Red Herring 100 Global in 2016.
● Finalist at Wall Street Journal Startup Showcase in 2016.
● Winner of eN-ABLE Startup Award in the Genomics Category in 2016.
● Women Economic Forum honored Mapmygenome CEO, Anu Acharya, with the award "Iconic Innovative
Trailblazers of the Decade" in 2016.
● Top 10 innovative companies from India by FAST COMPANY in 2016.
● NASSCOM EMERGE 50 - LEAGUE OF 10 in 2015.
● SMARTCEO list of top 50 startups, for contribution to healthcare in 2015.
● Innovative Healthcare Startup by VC Circle in 2015
● 5 Top Innovators for Jio Economic Times Startup Awards 2015; CEO, Anu Acharya received the “Women Ahead”
honor.
● Bio Excellence “Emerging Company of the Year” by the Karnataka Government in 2015.

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5 © Copyright 2021 Mapmygenome
Advisors
Scientific Advisory Board

Dr. Mathukumalli Vidyasagar Dr. Ravi N. Bathina Dr. Partha Majumder


kkk kkk

Former executive VP at TCS, where he Medicine at Kurnool Medical College ● Distinguished Professor, NIBMG
headed the Advanced Technology Center Member of the Fort Wayne Medical Society,
● Founder Director NIBMG
Leading control theorist and a Fellow of the Indiana State Medical Association and
Royal Society the American Medical Association ● Professor and Head Genetics, IS
Author of 12 books and 150 papers Andhra University alumnus ● Member of several National and
international committees

Eminent board with diverse experience

Mr. R Gopalakrishnan Dr. Anula Jayasuriya Mr. Arjun Malhotra


kkk kkk kkk

Corporate Leader for 48 years MD, Invascent Capital Founder member, HCL
Author of 6 books Skyline Ventures; TVM; VP Roche; VP, Founder: Headstrong, Techspan, GS Sanyal
Director: Tata Sons; Vice Chairman :HLL; Genomics Collaborative School of Telecom
Chairman: Unilever Arabia; MD: Brooke BA, MD, PhD Harvard University Board member: IIT Kharagpur, IIM, several
Bond other startups
IIT Kharagpur alumnus IIT Kharagpur alumnus

Backed by reputed angel investors Supported by a strong operating team, a panel of doctors & scientific advisors

7+
200 Employees Scientific advisory board

13+
Doctor panel
Ratan Tata Rajan Anandan

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6 © Copyright 2021 Mapmygenome
Management Team
Led by a serial entrepreneur with long standing experience in the genomics industry
Serial entrepreneur; First venture Ocimum Biosolutions acquired Awards and Recognitions Founder, President, & CFO of Ocimum Biosolutions with
3 international firms and raised 2 rounds of capital from IFC, ✔ Distinguished Alumna, IIT experience in acquiring three international firms and raised
Kubera Kharagpur, 2017 two rounds of capital

Former Vice Chair, Global Agenda Council on Genetics, WEF; ✔ Women Ahead honor; ET CFA charter holder with 6+ years of experience working in
Former President, Hyderabad chapter of the Entrepreneurs Startup Awards (2015) several roles from equity analyst to a financial risk manager,
Organization ✔ FLO Women Achiever Award, prior to Ocimum
FICCI (2012) MBA from the University of Illinois at Urbana Champaign and
Anu Acharya Serves as the governing board member of NIBMG, NIAB*;
✔ Young Global Leader, World
Subash Lingareddy a MS from the University of Chicago
Founder and CEO IIT Kharagpur graduate; PG in Physics and MIS from University Economic Forum (2011) Founder
of Illinois Graduate of Indian Institute of Technology at Kharagpur, India
✔ Entrepreneur of the Year, (IIT)
Team
Biospectrum (2008)

Dr. Naveen Talwar Dr. G.S. Kochar Pooja Ramchandran


Chief Medical Officer Nutrition Expert Vice President of Genetic Counseling
kkk kkk kkk

Pervious Orthopedics Director at the 20+ years experience in nutrition, wellness, and First Genetic Counselor in India with a
Rockland Group of Hospitals pharmaceuticals formal degree in genetic counseling
Orthopedic surgeon & Medical Advisor with Prior experience at VLCC HealthCare LTD as Genetic Counselor consultant at hospitals
knowledge of Healthcare in India Head of Research, Technical Operations, and including Lilavati, Hinduja Healthcare, in
UCMS College and KGMC alumnus Service Delivery Mumbai
JIPMER Chennai and IMT Ghaziabad alumnus Johns Hopkins University alumna

Leadership Team

Praveen Parthavneni Dr. Sandhya Kiran Dr Aravind Kumar


Vice President- Alliances k
Pemmasani Head Lab Operations
Vice President of Bioinformatics
Praveen is an Management graduate kkk Was Head of Genomic Services at
with 14 years of Business Expertise in the application of statistical Sandor
development experience in multiple techniques to genomic data Research Officer at CCMB
industries. Key role is to identify statistically significant
PhD: JNTU
SNP panels for various diseases, traits, and
2 medications

7 © Copyright 2021 Mapmygenome

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