P168: Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study*

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Main Authors: Grace VanNoy, Brooklynn Gasser, Robert Pilarski, John Ranola, Meghan Towne
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425001724
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author Grace VanNoy
Brooklynn Gasser
Robert Pilarski
John Ranola
Meghan Towne
author_facet Grace VanNoy
Brooklynn Gasser
Robert Pilarski
John Ranola
Meghan Towne
author_sort Grace VanNoy
collection DOAJ
format Article
id doaj-art-5bfd8b7015444f699e3db3d74ae53797
institution OA Journals
issn 2949-7744
language English
publishDate 2025-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj-art-5bfd8b7015444f699e3db3d74ae537972025-08-20T02:19:22ZengElsevierGenetics in Medicine Open2949-77442025-01-01310213310.1016/j.gimo.2025.102133P168: Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study*Grace VanNoy0Brooklynn Gasser1Robert Pilarski2John Ranola3Meghan Towne4Ambry GeneticsAmbry GeneticsAmbry GeneticsAmbry GeneticsAmbry Geneticshttp://www.sciencedirect.com/science/article/pii/S2949774425001724
spellingShingle Grace VanNoy
Brooklynn Gasser
Robert Pilarski
John Ranola
Meghan Towne
P168: Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study*
Genetics in Medicine Open
title P168: Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study*
title_full P168: Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study*
title_fullStr P168: Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study*
title_full_unstemmed P168: Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study*
title_short P168: Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study*
title_sort p168 diagnostic yield of exome sequencing in adults with rare disease an eight year retrospective study
url http://www.sciencedirect.com/science/article/pii/S2949774425001724
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AT robertpilarski p168diagnosticyieldofexomesequencinginadultswithrarediseaseaneightyearretrospectivestudy
AT johnranola p168diagnosticyieldofexomesequencinginadultswithrarediseaseaneightyearretrospectivestudy
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