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- W1974915314 endingPage "85" @default.
- W1974915314 startingPage "75" @default.
- W1974915314 abstract "Genomic rearrangements can result in losses, amplifications, translocations and inversions of DNA fragments thereby modifying genome architecture, and potentially having clinical consequences. Many genomic disorders caused by structural variation have initially been uncovered by early cytogenetic methods. The last decade has seen significant progression in molecular cytogenetic techniques, allowing rapid and precise detection of structural rearrangements on a whole-genome scale. The high resolution attainable with these recently developed techniques has also uncovered the role of structural variants in normal genetic variation alongside single-nucleotide polymorphisms (SNPs). We describe how array-based comparative genomic hybridisation, SNP arrays, array painting and next-generation sequencing analytical methods (read depth, read pair and split read) allow the extensive characterisation of chromosome rearrangements in human genomes." @default.
- W1974915314 created "2016-06-24" @default.
- W1974915314 creator A5031197087 @default.
- W1974915314 creator A5040117240 @default.
- W1974915314 date "2011-11-16" @default.
- W1974915314 modified "2023-10-10" @default.
- W1974915314 title "Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics" @default.
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