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Abstract

Grant Number:	1R43HG002971-01
PI Name:	SMITH, DOUGLAS R.
PI Email:	dsmith@agencourt.com
PI Title:	DIRECTOR, AFENTCOURT SEQUENCING CENTER
Project Title:	Multiplex polony genotyping

Abstract: (Revised Abstract) Description: The ascertainment of millions of SNPs in the human genome, characterization of haplotype blocks and development of improved SNP-based linkage panels has fueled the need for accurate, efficient, and low cost SNP genotyping technologies to support genetic inheritance and disease association studies. The overall goals of this proposal are to develop and test a novel method for multiplex genotyping using in-gel polony amplification and fluorescence in situ sequencing. In Phase I, the core genotyping technology will be tested using a set 372 SNPs from The SNP Consortium (TSC) linkage panel with known genotypes on individuals from the CEPH families. Genotypic data will be collected from 48 unrelated CEPH individuals and evaluated in terms of success rate and accuracy. The cost competitiveness of the technology relative to other established genotyping technologies will then be evaluated.

Thesaurus Terms:
genetic screening, genotype, microarray technology, single nucleotide polymorphism, technology /technique development
family genetics, fluorescence resonance energy transfer, linkage mapping, polymerase chain reaction
human genetic material tag

Institution:	AGENCOURT BIOSCIENCE CORPORATION
	100 CUMMINGS CTR, STE 107G
	BEVERLY, MA 01915
Fiscal Year:	2003
Department:
Project Start:	30-SEP-2003
Project End:	29-MAR-2004
ICD:	NATIONAL HUMAN GENOME RESEARCH INSTITUTE
IRG:	ZRG1

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