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https://www.selleckchem.com/products/ch5183284-debio-1347.html The UK Biobank is an unprecedented resource for human disease research. In March 2019, 49,997 exomes were made publicly available to investigators. Here we note that thousands of variant calls are unexpectedly absent from this dataset, with 641 genes showing zero variation. We show that the reason for this was an erroneous read alignment to the GRCh38 reference. The missing variants can be recovered by modifying read alignment parameters to correctly handle the expanded set of contigs available in the human genome reference. Given the size and complexity of such population scale datasets, we propose a simple heuristic that can uncover systematic errors using summary data accessible to most investigators. © 2020 John Wiley & Sons Ltd/University College London.INTRODUCTION An increasing number of cervical cancer survivors combined with lack of data on the efficacy of long-term surveillance, challenges existing follow-up models. However, before introducing new follow-up models, cervical cancer survivors' own views on follow up are important. We aimed to explore preferences for follow up in long-term cervical cancer survivors and their associations with self-reported late-effects. MATERIAL AND METHODS In 2013, we mailed 974 Norwegian long-term cervical cancer survivors treated during 2000-2007 a questionnaire with items covering preferences for follow up after treatment, clinical variables and validated questionnaires covering anxiety, neuroticism and depression. RESULTS We included 471 cervical cancer survivors (response rate 57%) with a median follow up of 11 years. In all, 77% had FIGO stage I disease, and 35% were attending a follow-up program at the time of survey. Of the patients, 55% preferred more than 5 years of follow up. This was also preferred by 57% of cervical cancer survivors who were treated with conization only. In multivariable analyses, chemo-radiotherapy or surgery with radiation and/or c

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