CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients
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DOI: 10.1093/nar/gkab347
Abstract: Abstract Copy Number Variants (CNVs) are an important cause of rare diseases. Array-based Comparative Genomic Hybridization tests yield a ∼12% diagnostic rate, with ∼8% of patients presenting CNVs of unknown significance. CNVs interpretation is particularly… read more here.
Keywords: web tool; interpretation; cnvxplorer web; disease ... See more keywords