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Molecular biology / DNA sequencing / Exome sequencing / Exome / Dor Yeshorim / Genetic testing / Joubert syndrome / Genetic screen / Mutation / Biology / Genetics / Medical genetics


Scientists use next-gen sequencing to rapidly discover genetic cause of devastating disorder
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Document Date: 2015-02-25 18:14:51

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Company

Cold Spring Harbor Laboratory / Dor / /

Country

Israel / /

Facility

Hannon laboratory / Hebrew University Medical Center / /

IndustryTerm

premarital genetic disease carrier-screening / research / high carrier rate / /

MedicalCondition

common genetic diseases / rare genetic disease / disorder / Joubert Syndrome / premarital genetic disease / neurological disease / /

Organization

Hebrew University Medical Center / Dor Yeshorim / /

Person

Gregory J. Hannon / Alan L. Shanske / Orly Elpeleg / Greg Hannon / Simon Edvardson / Yaniv Erlich / John Moshe Gomori / Joseph Ekstein / /

Position

co-author / Professor and HHMI investigator / /

PublishedMedium

the American Journal of Human Genetics / /

URL

www.tcpdf.org / http /

SocialTag