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New Tools for Structural Variation Analysis, De Novo Assembly and Closing of Complex Genomes

Award Information
Agency: Department of Health and Human Services
Branch: National Institutes of Health
Contract: 1R43HG007797-01A1
Agency Tracking Number: R43HG007797
Amount: $224,925.00
Phase: Phase I
Program: SBIR
Solicitation Topic Code: NHGRI
Solicitation Number: PA14-071
Timeline
Solicitation Year: 2014
Award Year: 2014
Award Start Date (Proposal Award Date): N/A
Award End Date (Contract End Date): N/A
Small Business Information
2905 Parmenter St.
MIDDLETON, WI 53562-1614
United States
DUNS: 19710669
HUBZone Owned: No
Woman Owned: No
Socially and Economically Disadvantaged: No
Principal Investigator
 MICHAEL LODES
 (608) 831-9011
 mlodes@lucigen.com
Business Contact
 DAVID MEAD
Phone: (608) 203-9500
Email: dmead@lucigen.com
Research Institution
 Stub
Abstract

DESCRIPTION (provided by applicant): Next-generation sequencing (NGS) platforms are fundamentally altering genetic and genomic research by providing massive amounts of data in a low-cost, high-throughput format. The main drawback of existing technologies is the short sequence read lengths they produce. Existing library prep methods are also constrained in producing short inserts of only a few kb. As a result, de novo assembly of genomes is not practical with short read NGS technologies alone. Even with a high quality reference human genome, resequencing and assembly of new human genomes is a significant challenge when analyzing complex genomic regions. Haplotyping across more than a few kb is not achieved without resorting to cloned DNA. New tools that bridge the gap between massively parallel short read sequencing technologies (lt1,500 bases) and the need for large scaffolds gt 20 kb to assemble a genome are clearly needed. The SBIR Phase I grant proposal New Tools for Structural Variation Analysis, De N

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

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