Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights into telomere biology on a previously unimaginable scale. To this end, a number of approaches for estimating telomere length from whole-genome sequencing data have been proposed. Here we present Telomerecat, a novel approach to the estimation of telomere length. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agnostic to the number of telomeres present, making it suited for the purpose of estimating telomere length in cancer studies. Telomerecat also accounts for interstitial telomeric reads and presents a novel approach to dealing with sequencing errors. We show that Telomerecat performs well at telomere length estimation when compared to leading experimental and computational methods. Furthermore, we show that it detects expected patterns in longitudinal data, repeated measurements, and cross-species comparisons. We also apply the method to a cancer cell data, uncovering an interesting relationship with the underlying telomerase genotype

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Equality Good Relations and A Shared Future

There are two major public policy objectives in Northern Ireland. One is the equality agenda designed to deliver the promise in the Good Friday Agreement of equality and parity of esteem for the two main communities and for members of other social and ethnic groups. The other is the Shared Future agenda designed to foster integration and good relations between the two main communities and between them and minorities. The official position is that these two policy objectives are mutually consistent and complementary and can be pursued with equal commitment. The reality is rather less straightforward. There are in practice two different bureaucratic systems operating to two different models of implementation

Observer blind randomised controlled trial of a tailored home exercise programme versus usual care in people with stable inflammatory immune mediated neuropathy

BACKGROUND: Inflammatory neuropathies such as Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and paraproteinaemic demyelinating neuropathy are a heterogenous group of peripheral nerve disorders that affect around one to two people per 100,000. Whilst treatments such as intravenous immunoglobulin, plasma exchange and corticosteroids have generally positive results, long-term residual symptoms and associated activity limitations are common. There is currently no standardised care for patients with ongoing activity limitation and participation restriction as a result of inflammatory neuropathy IN but data from observational studies and a randomised controlled trial suggest that exercise either alone or as part of a multidisciplinary rehabilitation programme may be beneficial in improving activity limitation. Tailoring the intervention for participants following physiotherapy assessment and incorporating patient preference for type and location of exercise may be important. METHODS/DESIGN: The current study is a pragmatic, prospective, parallel observer-blind, randomised controlled trial to evaluate the efficacy and cost-effectiveness of a twelve week tailored home exercise programme versus advice and usual care. Seventy adults with stable immune mediated inflammatory neuropathy IN will be recruited to the study from two main sources: patients attending selected specialist peripheral nerve clinics in the South East and West Midlands of England and people with who access the GAIN charity website or newsletter. Participants will be randomised to receive either advice about exercise and usual care or a 12 week tailored home exercise programme. The primary outcome of activity limitation and secondary outcomes of fatigue, quality of life, self-efficacy, illness beliefs, mood and physical activity will be assessed via self-report questionnaire at baseline, 12 weeks and 12 months post intervention. Cost effectiveness and cost utility will be assessed via interview at baseline and 12 months post intervention. Intention to treat analysis will be our primary model for efficacy analysis. Semi-structured interviews will be conducted with a selected sample of participants in order to explore the acceptability of the intervention and factors affecting adherence to the exercise programme. DISCUSSION: This is the first randomised controlled trial to compare the efficacy and cost-effectiveness of tailored home exercise with advice about exercise and usual care for adults with inflammatory neuropathy. TRIAL REGISTRATION: Current Controlled Trials ISRCTN1331169