Guidelines for diagnostic next-generation sequencing

Abstract:

We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation
of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group...

Type:

Journal Article

Date:

2015

Authors and Contributors:

Gert Matthijs Erika Souche Mariëlle Alders Anniek Corveleyn Sebastian Eck Ilse Feenstra Valérie Race Erik Sistermans Marc Sturm Marjan Weiss Helger Yntema Egbert Bakker Hans Scheffer Peter Bauer

Pages:

2–5

Site link:

Read the Journal Article: Guidelines for diagnostic next-generation sequencing

URL Citation:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226/

Issue:

1

Volume:

24

Publication:

European Journal of Human Genetics

LawSeq^SM Record Last Modified:

08/10/2018