Article
Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples
2020-07-16
Abstract excerpt
Chromosomal aberrations and structural variations are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics, karyotyping and CNV-microarrays, in spite of the low resolution of the first one and the inability to detect neither balanced SVs nor to provide the genomic localization or the orientation of duplicated segments, of the latter. We here investigate...
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Identifiers and source
- Literature Corpus work
- 852923f3-7715-5855-b130-760574e764ff
- DOI
- 10.1101/2020.07.15.205245