Low-input CSF cfDNA shallow whole-genome sequencing for CNV-based diagnosis and monitoring of leptomeningeal metastasis in lung cancer.

Although the sensitivity difference between GAP and cytology did not reach statistical significance (paired McNemar test, P = 0.211), GAP maintained robust diagnostic performance that was at least comparable to cytology (0.80 [0.61–0.92] vs. 0.76 [0.62–0.88]), and both numerically more sensitive than aneuploidy detection (0.51 [0.26–0.72]).

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