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Article

Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

18 Apr 2020

Abstract excerpt

INTRODUCTION: Applying whole-exome sequencing (WES) for the diagnosis of diseases in children has shown significant diagnostic strength compared with chromosomal microarray. WES may also have the potential of adding clinically relevant prenatal information in cases where a fetus is found to have structural anomalies. We present results from the first fetal exomes performed in a tertiary center in Denmark....

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Share to Genomic variations and chromosomal abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32304219
DOI: 10.1111/aogs.13871

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