A holistic approach to maximise diagnostic output in trio exome sequencing

INTRODUCTION: Rare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants that are identified in the index patient in WES, pa...

Descripción completa

Detalles Bibliográficos
Autores principales: von Hardenberg, Sandra, Wallaschek, Hannah, Du, Chen, Schmidt, Gunnar, Auber, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238563/
https://www.ncbi.nlm.nih.gov/pubmed/37274821
http://dx.doi.org/10.3389/fped.2023.1183891

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238563/
https://www.ncbi.nlm.nih.gov/pubmed/37274821
http://dx.doi.org/10.3389/fped.2023.1183891

Ejemplares similares