Article

BinDel: detecting clinically relevant fetal genomic microdeletions using low-coverage whole-genome sequencing-based NIPT

2022-09-23

Abstract excerpt

<h4>Background</h4> Clinically pathogenic chromosomal microdeletions (MDs) cause severe fetal genetic disorders such as DiGeorge and Prader-Willi/Angelman syndromes. Motivated by the absence of reliable blood and/or ultrasound screening biomarkers for detecting microdeletion risk during the first-trimester screening, we developed and validated BinDel, a software package to evaluate the risk of clinically pathogeni...

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Literature Corpus work: 201f83a6-ff4d-5cbd-a81e-2203bbf2c3d4
DOI: 10.1101/2022.09.20.22280152

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