Supplementary testing after negative or inconclusive exome sequencing results

Supplementary testing after negative or inconclusive exome sequencing results

Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and preventing the invasive, time-consuming, and costly diagnostic odyssey. The present study aimed at evaluating the usefulness and clinical utilit...

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Bibliographic Details
Main Authors: Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2023-06-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
exome sequencing
deletion duplication
methylation
mitochondrial genome
saudi arabia
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=95398

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http://www.ejmanager.com/fulltextpdf.php?mno=95398

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