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• W2107961241 abstract "Since the inception of clinical cytogenetics in the late 1950s, the field has witnessed the evolution of multiple methodologies for the evaluation of chromosomal imbalances and rearrangements. From the replacement of solidly stained chromosomes by Giemsa banding (G-banding) to in situ hybridization and microarrays, each technique has sought to detect smaller and smaller chromosomal aberrations across the genome. Microarray analysis has revealed that copy-number variants—a class of mutation resulting from the loss (deletion) or gain (duplication) of genomic material that is >1 kb in size—are among the significant contributors to human disease and normal variation. Here, we evaluate the history and utility of various methodologies and their impact on the current practice of clinical cytogenetics." @default.
• W2107961241 created "2016-06-24" @default.
• W2107961241 creator A5088638156 @default.
• W2107961241 creator A5089794152 @default.
• W2107961241 date "2015-08-24" @default.
• W2107961241 modified "2023-10-01" @default.
• W2107961241 title "Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence" @default.
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• W2107961241 doi "https://doi.org/10.1146/annurev-genom-090413-025346" @default.
• W2107961241 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26077817" @default.
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