Challenges:
-
Don’t necessarily agree on where the value is
o
Do they put the software out for free to “seed” the
software
o
Do they sell it to different segments?
-
What is the customer lifecycle?
o
Will a customer come back in 6 weeks or 6 years?
SPIDEX
-
On areas where others can analyze: we are as
good or better Accuracy
-
Plus, can analyze more of the genome than
competitors
-
Quality product, or buggy?
User Experience
-
Ease of use?
Faster? Easier to integrate? Convenient?
-
Analyze varients at specific locations across the genome
Customers currently rely on a tool called ANNOVAR
-
They upload genomes to ANNOVAR and ANNOVAR spits
out out
-
T
ANNOVAR is an academic tool that was
-
It’s a database of databases
-
If the genome is a book, all of the information
in annovar is like the highlighting and notes in that book
-
Bookmarks the locations of the variants
-
Tute Genomics is the UI for ANNOVAR
HLI: company that needs the data to create pharmaceuticals that
they can sell
EXAMPLE
$10/sample
Variant analysis costs between $1,000 and $2,000 (partly
because of the sequencing)
Cost for analysis is $200 to $400
PARTNERSHIP OPP: package anlysis with the sequencing
Sequencing: blood sample in, sequence of 3 billion letter
out (your book)
“variant” calling: identifies the genomes that are different
than the “reference”. Flagging is done
during the s
$3,000 for 100 samples (patients) - $10/patient
KEY QUESTIONS:
How many genomes are sequenced a year:
One machine can sequence 18,000
2015: 400,000 (whole genomes world wide that will sequenced)
5 year outlook is 50 million
Ark
Human Genomes sequenced in 40,000
In 2014: 2014: 235,000
2019: 23,000,000
2024: 4,000,000,000
Different kinds of sequencing:
1.
Fully sequenced – looking at
2.
Looking at “active genome set” – the % of the
genome that is actively defining us\
3.
Looking at “key markers” only
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