SBIR/STTR Research Award
Cost effective high quality genome assembly for non model organisms
Award amount
$204,240Program and phase
SBIR · Phase IAward year
2017Award details
- Awarding agency
- Department of Health and Human Services
- Branch
- National Institutes of Health
- Recipient company
- End2End Genomics LLC
- Proposal award date
- 2017-05-01
- Contract end date
- 2019-04-30
- UEI
- Not reported
- Solicitation number
- PA15-269
- Topic code
- NHGRI
Research abstract
Abstract
Thousands of genes are shared many unchanged among animals that have diverged for billions of
years It is this shared ancestry that allows for genetic animal models for human pathogens from
neural development to antibody production one of the most powerful tools at our disposal to unravel
the mysteries of our genome and its utility for health These models are currently limited to a few
species representing only a tiny fraction of the phenotypic diversity studied by scientists A major barrier
to genomic research in non model species is a reference genome the development of which is costly
and requires expertise Our goal is to allow the expansion of model species to represent all branches of
the evolutionary tree by making high quality de novo genome assembly inexpensive and available to all
researchers We propose to develop a gold standard test genome for de novo assembly using an F
hybrid individual We will develop an automated evaluation pipeline based on this gold standard to
evaluate commodity and emerging commercial products for their utility in inexpensive genome
assembly Aim In Phase I we will assess X Genomics linked reads the most promising current
technology for automated de novo genome assembly This will include essential evaluation and
optimization of error rates as well as benchmarking of required sequencing and computational
resources Aim Narrative
Reference genomes for a diverse array of species are necessary for the development of new model
systems for human pathogens as well as allowing for basic research into the process of genetics and
evolution The goals of the proposed research are automated inexpensive reference genomes for any
species
Technology keywords
Not reported
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