Navigating Web-Based Resources for Genetic Testing of Chromosome Abnormalities, CNVs and Gene Mutations

Deqiong Ma, Bixia Xiang


Current clinical genetic and genomic testing involves genome-wide evaluation of chromosomal abnormalities, copy number variants (CNVs) and gene mutations. The major challenge facing genetic laboratory directors, physicians and counselors is to distinguish pathogenic variants from variants of unknown clinical significance (VOUS) and benign polymorphic variants. Various genetic and genomic databases were generated and maintained to facilitate the interpretation process. Those databases typically present collections of specific types of genetic abnormalities with cross references all relevant clinical findings and biological knowledge. This paper outlines the prevailing web-based resources used for genetic and genomic testing results interpretation in three categories: chromosomal abnormalities, CNVs, and gene mutations. Routine routes on utilizing these web resources in clinical setting are provided and some limitations are discussed. 


genetic and genetic testing, CNV, gene mutations, genetic variants, clinical interpretation, web-based databases

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