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Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges

23 Feb 2023

Abstract excerpt

Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal setting as well, although some hurdles remain, such as quantity and quality of input material, minimizing turn-around times, and ensuring consistent interpretation and reporting of variants. We present...

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Genomic variations and chromosomal abnormalities
Genomics and Rare Diseases
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36900003
DOI: 10.3390/diagnostics13050860

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