To enlighten investors on the impact of these breakthroughs and the opportunities they should create, we began publishing Big Ideas in 2017. This annual research report seeks to highlight



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ARK–Invest BigIdeas 2021

Long-Read Sequencing

Some clinical applications, such as rapid whole 
genome sequencing (WGS) within the pediatric 
intensive care setting, have high 
reimbursement rates—giving diagnostic 
providers more flexibility to switch to LRS.
1

Genetic variants of all sizes—from small to 
large—both in easy and hard-to-sequence 
genomic regions, can impact a patient’s 
phenotype. In ARK’s view, LRS tools provide the 
most comprehensive variant detection, 
regardless of sequence context.
2
ARK Believes That LRS 
Analytics Are Superior For 
Many Sequencing Applications
Pediatric cancers 
have unique molecular drivers such as 
hidden single-nucleotide variants (SNVs), gene fusions, 
structural variants, and methylation—all more amenable 
to LRS and optical mapping instruments.
3
Many 
rare diseases

which affect 350 million people globally, 
are genetic in origin. Short-read WGS surfaces <50% of the 
causes, forcing many patients into a diagnostic odyssey.
4
Common
hereditary diseases

especially those 
neurological in origin, have ambiguous clinical 
presentations which LRS can diagnose.
5
Studying
structural variations 
in a population and 
across diverse groups is vital to increasing the 
accuracy of molecular diagnostics.



$250 Million
$5 Billion
0
1
2
3
4
5
6
2020
2025
Total Addressable Market 
(Billions, USD)
LRS Market Size
(Subset of Overall Sequencing Market)
82% 
CAGR
1
*Inclusive of all third-generation sequencing providers. [1] CAGR: Compound Annual Growth Rate.
Forecasts are inherently limited and cannot be relied upon.
For informational purposes only and should not be considered investment advice, or a recommendation to buy, sell or hold any particular security. 
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