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Benign-Ex: Delineating Regions of the Human Genome Benign to Copy Number Variation.

2022-10-19 genetic and genomic medicine Title + abstract only
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While copy number variants (CNVs) have been identified as an important cause of rare genetic disorders, they have also been identified in unaffected control populations, making clinical interpretation of these lesions challenging. Discriminating benign CNVs from those pathogenic for rare genetic disorders, therefore, relies on understanding what regions of the human genome are tolerant to copy number variation. Benign-Ex is a python-based program that uses information from databases of CNVs to g...

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