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Pitfalls of haplotype phasing from amplicon-based long-read sequencing.
(Nature, 2016-02-17)The long-read sequencers from Pacific Bioscience (PacBio) and Oxford Nanopore Technologies (ONT) offer the opportunity to phase mutations multiple kilobases apart directly from sequencing reads. In this study, we used ... -
Events in Early Life are Associated with Female Reproductive Ageing: A UK Biobank Study.
(Nature, 2016-04-20)The available oocyte pool is determined before birth, with the majority of oocytes lost before puberty. We hypothesised that events occurring before birth, in childhood or in adolescence ('early-life risk factors') could ... -
Should Studies of Diabetes Treatment Stratification Correct for Baseline HbA1c?
(PLoS One, 2016-04-06)Baseline HbA1c is a major predictor of response to glucose lowering therapy and therefore a potential confounder in studies aiming to identify other predictors. However, baseline adjustment may introduce error if the ... -
Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health.
(Oxford Journals, 2016-02)How does a genetic variant in the FSHB promoter, known to alter FSH levels, impact female reproductive health? -
Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.
(BMJ, 2016-03-08)To determine whether height and body mass index (BMI) have a causal role in five measures of socioeconomic status. -
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
(Springer, 2016-03-31)The finding that patients with diabetes due to potassium channel mutations can transfer from insulin to sulfonylureas has revolutionised the management of patients with permanent neonatal diabetes. The extent to which the ... -
Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors.
(Springer, 2016-04-08)We aimed to identify microRNAs (miRNAs) under transcriptional control of the HNF1β transcription factor, and investigate whether its effect manifests in serum. -
Practical Classification Guidelines for Diabetes in patients treated with insulin: a cross-sectional study of the accuracy of diabetes diagnosis.
(Royal College of General Practitioners, 2016-04-14)Differentiating between type 1 and type 2 diabetes is fundamental to ensuring appropriate management of patients, but can be challenging, especially when treating with insulin. The 2010 UK Practical Classification Guidelines ... -
Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.
(Springer, 2016-03-10)Genome-wide association (GWA) studies have identified hundreds of common genetic variants associated with obesity and type 2 diabetes. These studies have usually focused on additive association tests. Identifying deviations ... -
Elaboration of the Gothenburg model of person-centred care.
(Wiley, 2016-05-18)Person-centred care (PCC) is increasingly advocated as a new way of delivering health care, but there is little evidence that it is widely practised. The University of Gothenburg Centre for Person-Centred Care (GPCC) was ...