Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours

Autor: Louise Harewood, Kamal Kishore, Matthew D. Eldridge, Steven Wingett, Danita Pearson, Stefan Schoenfelder, V. Peter Collins, Peter Fraser
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Genome Biology, Vol 18, Iss 1, Pp 1-11 (2017)
Druh dokumentu: article
ISSN: 1474-760X
DOI: 10.1186/s13059-017-1253-8
Popis: Abstract Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome, which is particularly detrimental in oncology where rearrangements play diagnostic and prognostic roles. Here we describe the use of Hi-C as a tool for detection of both balanced and unbalanced chromosomal rearrangements in primary human tumour samples, with the potential to define chromosome breakpoints to bp resolution. In addition, we show copy number profiles can also be obtained from the same data, all at a significantly lower cost than standard sequencing approaches.
Databáze: Directory of Open Access Journals