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PREFACE: In silico pipeline for accurate cell-free fetal DNA fraction prediction.

Lennart RamanMachteld BaetensMatthias De SmetAnnelies DheedeneJo Van DorpeBjörn Menten
Published in: Prenatal diagnosis (2019)
Allowing individual institutions to generate optimized models sidelines between-laboratory bias, as PREFACE enables user-friendly training with a limited amount of retrospective data. In addition, our software provides the fetal fraction based on the copy number state of chromosome X. We show that these measures can predict mixed multiple pregnancies, sex chromosomal aneuploidies, and the source of observed aberrations.
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