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- W4242893802 abstract "PURPOSE: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number variants (CNVs) has become a first-tier diagnostic test for patients with neurodevelopmental disorders, with a diagnostic yield of 10-20%. However, for most other genetic disorders, the role of CNVs is less clear and most diagnostic genetic studies are generally limited to the study of single-nucleotide variants (SNVs) and other small variants. With the introduction of exome and genome sequencing, it is now possible to detect both SNVs and CNVs using an exome- or genome-wide approach with a single test.METHODS: We performed exome-based read-depth CNV screening on data from 2,603 patients affected by a range of genetic disorders for which exome sequencing was performed in a diagnostic setting.RESULTS: In total, 123 clinically relevant CNVs ranging in size from 727 bp to 15.3 Mb were detected, which resulted in 51 conclusive diagnoses and an overall increase in diagnostic yield of ~2% (ranging from 0 to -5.8% per disorder).CONCLUSIONS: This study shows that CNVs play an important role in a broad range of genetic disorders and that detection via exome-based CNV profiling results in an increase in the diagnostic yield without additional testing, bringing us closer to single-test genomics.Genet Med advance online publication 27 October 2016. PMID: 28574513" @default.
- W4242893802 created "2022-05-12" @default.
- W4242893802 creator A5033872267 @default.
- W4242893802 date "2020-03-04" @default.
- W4242893802 modified "2023-09-27" @default.
- W4242893802 title "Faculty Opinions recommendation of Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders." @default.
- W4242893802 doi "https://doi.org/10.3410/f.726890430.793571950" @default.
- W4242893802 hasPublicationYear "2020" @default.
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