Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline

Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline

The potential of genome sequencing (GS), which allows detection of almost all types of genetic variation across nearly the entire genome of an individual, greatly expands the possibility for diagnosing genetic disorders. The opportunities provided with this single test are enticing to researchers an...

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Bibliographic Details
Main Authors: Joohyun Park, Marc Sturm, Olga Seibel-Kelemen, Stephan Ossowski, Tobias B. Haack
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Genes
Subjects:
genetic diagnostics
genome sequencing
molecular diagnostics
Online Access:https://www.mdpi.com/2073-4425/15/1/136

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