Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Abstract 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 opp...

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Main Authors: Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Genome Medicine
Subjects:
NGS-based resequencing
Systematic reanalysis
Rare disease
Diagnostic implementation of recommended ACMG guideline
Longitudinal follow-up of systematic cohort
Online Access:https://doi.org/10.1186/s13073-022-01069-z

Internet

https://doi.org/10.1186/s13073-022-01069-z

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