A clinically feasible algorithm for the parallel detection of glioma‐associated copy number variation markers based on shallow whole genome sequencing
Shuai Wu,
Chenyu Ma,
Jiawei Cai
et al.
Abstract:Molecular features are incorporated into the integrated diagnostic system for adult diffuse gliomas. Of these, copy number variation (CNV) markers, including both arm‐level (1p/19q codeletion, +7/−10 signature) and gene‐level (EGFR gene amplification, CDKN2A/B homozygous deletion) changes, have revolutionized the diagnostic paradigm by updating the subtyping and grading schemes. Shallow whole genome sequencing (sWGS) has been widely used for CNV detection due to its cost‐effectiveness and versatility. However,… Show more
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