BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low-Coverage Whole-Genome Sequencing-Based NIPT.

ABSTRACT:

Objective

Clinically pathogenic chromosomal microdeletions cause severe genetic disorders. Motivated by the absence of reliable screening of microdeletions during the first-trimester screening, we developed BinDel, a software tool to determine the risk of clinically relevant pathogenic fetal microdeletions from low-coverage whole-genome-sequencing (WGS) based NIPT data.

Methods

We developed novel computational software that employs a targeted approach with region-specific normalisation and calling procedures to detect microdeletion risk in predefined chromosomal regions. The software was developed using 500 NIPT samples and validated on an additional 84 samples, including 34 rare fetal microdeletions confirmed both pre- and postnatally.

Results

BinDel correctly identi

SUBMITTER: Paluoja P 

PROVIDER: S-EPMC11893519 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature