Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

Objective: The growing availability of next-generation sequencing technologies has revolutionized medical genetics, facilitating discovery of causative genes in numerous Mendelian disorders. Nevertheless, there are still many undiagnosed cases. We report the experience of the Genetics Institute at R...

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Bibliographic Details
Main Authors: Karin Weiss, Alina Kurolap, Tamar Paperna, Adi Mory, Maya Steinberg, Tova Hershkovitz, Nina Ekhilevitch, Hagit N. Baris
Format: Article
Language:English
Published: Rambam Health Care Campus 2018-07-01
Series:Rambam Maimonides Medical Journal
Subjects:
Consanguinity
personalized medicine
rare genetic disease
whole-exome sequencing
Online Access:https://www.rmmj.org.il/issues/38/871/manuscript

Internet

https://www.rmmj.org.il/issues/38/871/manuscript

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