Mapping translocation breakpoints by next-generation sequencing

ABSTRACT: Balanced chromosome rearrangements (BCRs) can cause genetic diseases by disrupting or inactivating specific genes, and the characterisation of breakpoints in disease-associated BCRs has been instrumental in the molecular elucidation of a wide variety of genetic disorders. However, mapping chromosome breakpoints using traditional methods, such as in situ hybridization with fluorescent dye-labeled bacterial artificial chromosome clones (BAC-FISH), is rather laborious and time consuming. In addition, the resolution of BAC-FISH is often insufficient to unequivocally identify the disrupted gene. To overcome these limitations, we have performed shotgun sequencing of flow-sorted derivative chromosomes using ‘next generation’ (Solexa/Illumina) multiplex sequencing-by-synthesis technology. As s

ORGANISM(S): Homo sapiens

SUBMITTER: Reinhard Ullmann 

PROVIDER: E-GEOD-10115 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress