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Empowering real time web based genomic big data analysis at commercial scale

Award Information
Agency: Department of Health and Human Services
Branch: National Institutes of Health
Contract: 1R41HG009096-01
Agency Tracking Number: R41HG009096
Amount: $274,920.00
Phase: Phase I
Program: STTR
Solicitation Topic Code: 172
Solicitation Number: PA16-414
Solicitation Year: 2016
Award Year: 2016
Award Start Date (Proposal Award Date): 2016-09-22
Award End Date (Contract End Date): 2017-08-31
Small Business Information
724 E 4TH AVE
Salt Lake City, UT 84103-3444
United States
DUNS: 079748783
HUBZone Owned: No
Woman Owned: No
Socially and Economically Disadvantaged: No
Principal Investigator
 (617) 319-1357
Business Contact
Phone: (617) 319-1357
Research Institution
75 SOUTH 2000 EAST
SALT LAKE CITY, UT 84112-8930
United States

 Nonprofit college or university

DESCRIPTION provided by applicant The academic iobio project delivers web based applications that visualize and provide real time interactive analysis with multiple different data
types generated as part of next generation sequencing projects These applications are open source and provided for free This proposal aims to develop critical computational infrastructure to enable the iobio project to offer commercial applications providing more power and functionality than is possible for the academic project In particular it is necessary to build multiple components that will facilitate management of large computational resources in an on demand scalable and robust manner and provide mechanisms for remote file storage Additionally functionality to seamlessly combine real time analysis which is the mainstay of the academic developments with large scale analysis undertaken by commercial applications will empower all users of sequencing data from clinicians genetic counsellors to large scale sequencing centres and institutions The long term objective of the proposal is to position Frameshift labs to rapidly and easily build new commercially viable web based applications to tackle current bioinformatics analysis problems This proposal also includes the development of a commercial application called multibam iobio that will provide producers and consumers of large scale sequencing studies the means to evaluate the quality of their massive data sets In order to perform population level genome wide association studies GWAS or more focused Mendelian studies on small family pedigrees the quality of the data must be understood prior to expending large amounts of time and resources on analysis The multibam iobio application will visualize high level statistics allowing outlier samples or data trends to be rapidly identified More focused real time analysis will be accessible for all samples The effectiveness of sequencing projects from focused somatic variant identification in tumor normal pairs to population scale GWAS demands consistently high data quality whether this is the underlying sequence alignments or genetic variants Multibam iobio will ensure that all interested parties regardless of computational experience and resource limitations can interrogate and fully understand their data

PUBLIC HEALTH RELEVANCE Research into the genetic basis of disease and accurate determination of treatment options is increasingly dependent on DNA sequencing This project will develop critical infrastructure for the IOBIO project and a web based intuitive application that will provide a critical understanding of the quality of sequencing data to everyone involved in analyzing or working with this data Ensuring the quality of data will help ensure high quality
results from all manner of sequencing based studies and ultimately lead to improved understanding of disease and potential treatment options

* Information listed above is at the time of submission. *

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