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. 2014 May;42(9):e75.
doi: 10.1093/nar/gku181. Epub 2014 Mar 7.

Estimating telomere length from whole genome sequence data

Zhihao Ding  1 , Massimo Mangino  2 , Abraham Aviv  3 , Tim Spector  2 , Richard Durbin  4 ; UK10K Consortium
Collaborators, Affiliations

Estimating telomere length from whole genome sequence data

Zhihao Ding et al. Nucleic Acids Res. 2014 May.

Abstract

Telomeres play a key role in replicative ageing and undergo age-dependent attrition in vivo. Here, we report a novel method, TelSeq, to measure average telomere length from whole genome or exome shotgun sequence data. In 260 leukocyte samples, we show that TelSeq results correlate with Southern blot measurements of the mean length of terminal restriction fragments (mTRFs) and display age-dependent attrition comparably well as mTRFs.

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Figures

Figure 1.
Figure 1.
Identification of telomeric reads. In cyan, the log scale frequencies of reads with different numbers of TTAGGG repeats averaged across the 260 TwinsUK samples, with corresponding plots for permutations of TTAGGG in other colours. In black, the correlation of TelSeq to mTRF as a function of the threshold k for the number of repeats per read used in the TelSeq measurement.
Figure 2.
Figure 2.
Comparison of TelSeq with experimental measure and age in TwinsUK samples. (a) TelSeq estimate of average telomere length plotted against mTRF estimate; TelSeq (b) and mTRF (c) estimates plotted against age. All average length estimates in kilobases and ages in years.
Figure 3.
Figure 3.
Sequencing lane variation in TelSeq measures. For each sample that was sequenced on more than 10 lanes, the SD of the length estimates across lanes is plotted against the mean length estimate. The CV, defined as the ratio of the SD to the mean, varies between 1.3 and 6.4%, with mean 3.17% and SD 0.98%.
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