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

08:00 EDT 30th July 2018 | BioPortfolio

Summary of "Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt."

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 Rambam Health Care Campus in rare disease diagnostics using whole-exome sequencing (WES).

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This article was published in the following journal.

Name: Rambam Maimonides medical journal
ISSN: 2076-9172
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