
Long Read Based Sequencing Software for the Comprehensive Analysis of Clinical SamplesAward last edited on: 9/21/2022
Sponsored Program
SBIRAwarding Agency
NIH : NIGMSTotal Award Amount
$1,500,000Award Phase
2Solicitation Topic Code
859Principal Investigator
Timothy J DurfeeCompany Information
Phase I
Contract Number: 1R44GM137643-01Start Date: 4/1/2020 Completed: 3/31/2022
Phase I year
2020Phase I Amount
$750,000Public Health Relevance Statement:
Long read sequencing technologies can decipher DNA molecules one thousand times longer than next generation sequencing machines. This has tremendous implications for clinical sequencing by giving researchers and clinicians access to previously opaque aspects of an individuals genome. In this project, we will develop the software needed by clinical sequencing labs to exploit this remarkable advance in the pursuit of improved disease prevention, detection and treatment.
Project Terms:
analytical tool; annotation system; base; Biological Sciences; Candidate Disease Gene; Catalogs; Clinical; clinical application; clinical sequencing; cohort; Collaborations; Computer software; Computers; contig; cost; cost effective; Data; Data Set; Detection; Development; Disease; disorder prevention; DNA; DNA Resequencing; Ensure; Environment; Evaluation; Feedback; Gene Family; Genes; genetic variant; Genome; genome browser; genome sequencing; genome-wide; Genomic DNA; Goals; Haplotypes; Heterozygote; Hour; improved; Individual; insertion/deletion mutation; instrument; interest; Kidney Diseases; Laboratories; Length; Methods; nanopore; Nature; next generation sequencing; novel; parallel processing; Phase; Polishes; Population; Privacy; Process; prototype; Provider; Pseudogenes; reference genome; Research Personnel; Running; Sampling; Series; software development; Statistical Methods; Stream; Structure; Targeted Resequencing; Technology; Time; tool; trait; Variant; Visualization; whole genome
Phase II
Contract Number: 5R44GM137643-02Start Date: 4/1/2020 Completed: 3/31/2023
Phase II year
2021Phase II Amount
$750,000Public Health Relevance Statement:
Long read sequencing technologies can decipher DNA molecules one thousand times longer than "next generation" sequencing machines. This has tremendous implications for clinical sequencing by giving researchers and clinicians access to previously opaque aspects of an individual's genome. In this project, we will develop the software needed by clinical sequencing labs to exploit this remarkable advance in the pursuit of improved disease prevention, detection and treatment.
Project Terms: