Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applica...
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
About this item
Full title
Author / Creator
Schobers, Gaby , Schieving, Jolanda H , Yntema, Helger G , Pennings, Maartje , Pfundt, Rolph , Derks, Ronny , Hofste, Tom , de Wijs, Ilse , Wieskamp, Nienke , van den Heuvel, Simone , Galbany, Jordi Corominas , Gilissen, Christian , Nelen, Marcel , Brunner, Han G , Kleefstra, Tjitske , Kamsteeg, Erik-Jan , Willemsen, Michèl A. A. P and Vissers, Lisenka E. L. M
Publisher
London: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referring clinician to discuss new diagnostic opportunities in due time. We performed a systematic study of...
Alternative Titles
Full title
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Authors, Artists and Contributors
Author / Creator
Schieving, Jolanda H
Yntema, Helger G
Pennings, Maartje
Pfundt, Rolph
Derks, Ronny
Hofste, Tom
de Wijs, Ilse
Wieskamp, Nienke
van den Heuvel, Simone
Galbany, Jordi Corominas
Gilissen, Christian
Nelen, Marcel
Brunner, Han G
Kleefstra, Tjitske
Kamsteeg, Erik-Jan
Willemsen, Michèl A. A. P
Vissers, Lisenka E. L. M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_444b339bc7834262a4908fed8af18424
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_444b339bc7834262a4908fed8af18424
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-022-01069-z
