Article

ClinCNV: multi-sample germline CNV detection in NGS data

2022-06-13

Abstract excerpt

Germline copy number variants (CNVs) are a common source of genomic variation involved in many genetic disorders, and their detection is crucial for clinical molecular diagnostics. Genomic microarrays, quantitative polymerase chain reaction (qPCR), and multiplex ligation-dependent probe amplification (MLPA) have been widely used for CNV detection in clinics for many years. Similarly, next-generation sequencing (NG...

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Literature Corpus work: 08ec1138-6108-5245-9fd6-bfb12fae0cb4
DOI: 10.1101/2022.06.10.495642

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