Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data

Matthew Parker, et al., Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data, Genome Biology, 2012, 13:R113.

To measure telomeric DNA content, we counted telomeric reads containing TTAGGGx4 or CCCTAAx4 and normalized to the average genomic coverage.

We found that the pattern of telomeric DNA alteration varies dramatically across the landscape of pediatric malignancies: telomere gain was found in 32% of solid tumors, 4% of brain tumors and 0% of hematopoietic malignancies.

A high proportion of osteosarcoma had long heterogeneous telomeres with ALT, … and some of the high grade gliomas had ALT and long telomeres.

They used qPCR, FISH and TRF for validation of telomere length measuring from WGS data.

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