Performance testing for the sensitivity and resolution of low-pass WGS for small CNV detection.

ABSTRACT:

Background

Low-pass genome sequencing (LP GS) has been widely used for the detection of copy number variations (CNVs). As a key algorithmic parameter of LP GS, window selection may influence the performance of LP GS. However, limited studies have investigated this parameter for the detection of small CNVs.

Methods

To evaluate of the impact of sliding window on true positive rate, additional interpretation workload and resolution, 40 simulated samples with 19 pre-defined CNVs of various read amounts were simulated. Fifty-seven clinical cases with previously ascertained CMA results (27 positive cases and 30 negative cases) were used to further evaluate the influence of sliding window for detection sensitivity and specificity.

Results

In general, the true positive rate i

SUBMITTER: Huang S 

PROVIDER: S-EPMC12752068 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature