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To evaluate and compare the performance of variant calling methods and their confidence scores, comparisons between a test call set and a " gold standard " need to be carried out. Unfortunately , these comparisons are not straightforward with the current Variant Call Files (VCF), which are the standard output of most variant calling algorithms for(More)
The analysis of whole-genome or exome sequencing data from trios and pedigrees has been successfully applied to the identification of disease-causing mutations. However, most methods used to identify and genotype genetic variants from next-generation sequencing data ignore the relationships between samples, resulting in significant Mendelian errors, false(More)
Interview data and health diary material were collected for an investigation of mothers' perceptions of their children's illnesses and of how they routinely coped with minor ailments in their children. The descriptions offered by the mothers of how they treated their children's symptoms and their actual use of various remedies as reported in the health(More)
SureChEMBL is a publicly available large-scale resource containing compounds extracted from the full text, images and attachments of patent documents. The data are extracted from the patent literature according to an automated text and image-mining pipeline on a daily basis. SureChEMBL provides access to a previously unavailable, open and timely set of(More)
Several sociological models have been put forward to explain illness behaviour. However, little research has examined general practitioners' understanding of mothers' perceptions of their children's health and illness. The aim of this study was to attempt to understand the cultural context of children's illness. Mothers' concerns about their children's(More)
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