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.
journal_name
Heredity (Edinb)journal_title
Heredityauthors
Le Scouarnec S,Gribble SMdoi
10.1038/hdy.2011.100subject
Has Abstractpub_date
2012-01-01 00:00:00pages
75-85issue
1eissn
0018-067Xissn
1365-2540pii
hdy2011100journal_volume
108pub_type
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