HIGHLIGHTS
- who: Ewa Janicki and collaborators from the Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of have published the paper: Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges, in the Journal: Diagnostics 2023, 13, 860. of /2023/
- what: Our data set, although limited, clearly shows the added value of WES in the prenatal setting in case of MCA.
- how: WES data were analyzed using an in-house developed pipeline which considers only de novo X-linked and recessive variants either in a predefined panel (e_g in case of a skeletal dysplasia . . .
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