Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics.

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

Heredity

authors

Le Scouarnec S,Gribble SM

doi

10.1038/hdy.2011.100

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

75-85

issue

1

eissn

0018-067X

issn

1365-2540

pii

hdy2011100

journal_volume

108

pub_type

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