DNALIGHTMAP

Mapping structural variation on native chromosomal DNA – a single molecule approach

Coordinatore	TEL AVIV UNIVERSITY    more  Organization address address: RAMAT AVIV city: TEL AVIV postcode: 69978 contact info Titolo: Ms. Nome: Lea Cognome: Pais Email: send email Telefono: 97236408774 Fax: 97236409697
Nazionalità Coordinatore	Israel [IL]
Totale costo	100˙000 €
EC contributo	100˙000 €
Programma	FP7-PEOPLE Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
Code Call	FP7-PEOPLE-2012-CIG
Funding Scheme	MC-CIG
Anno di inizio	2012
Periodo (anno-mese-giorno)	2012-09-01   -   2016-08-31

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	TEL AVIV UNIVERSITY  Organization address address: RAMAT AVIV city: TEL AVIV postcode: 69978 contact info Titolo: Ms. Nome: Lea Cognome: Pais Email: send email Telefono: 97236408774 Fax: 97236409697	IL (TEL AVIV)	coordinator	100˙000.00

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 Obiettivo del progetto (Objective)

'This proposal seeks to utilize single molecule optical detection to directly visualize and analyze genome structural and copy number variation (SVs & CNVs) spanning up to hundreds kb of native chromosomal DNA . The project focuses on a pathogenic macro satellite repeat in the subtelomere of chromosome 4q that is linked to the third most common inherited muscular dystrophy, Facioscapulohumeral muscular dystrophy (FSHD). Specific sequences on subtelomeres are labeled with fluorescent molecules via enzymatic reactions to create a unique, chromosome specific fluorescence pattern. The DNA is then stretched in thousands of parallel nanochannels by electrophoresis and imaged on a fluorescence microscope. The resulting patterns along the DNA backbone are compared to a reference map computed from the known genome sequence and variations from the reference are classified and characterized. Specifically, we will be able to count the exact number of repeat blocks in pathogenic vs. non-pathogenic chromosomes. The immediate outcome of this project is a powerful diagnostic tool for FSHD and a proof of principle for single molecule, high throughput structural variation analysis on a genomic scale.'