Introduction: Although treatment advances have improved survival rates for patients with metastatic breast cancer (MBC), patient expressed needs have not been evaluated in Ireland to date.
Methods: A 76 item questionnaire was designed by the lead author and a cohort of 41 other MBC patients in collaboration with a multidisciplinary team. The online survey was publicised nationally on all media platforms.
Gene-based burden tests are a popular and powerful approach for analysis of exome-wide association studies. These approaches combine sets of variants within a gene into a single burden score that is then tested for association. Typically, a range of burden scores are calculated and tested across a range of annotation classes and frequency bins.
View Article and Find Full Text PDFWhole-genome sequencing (WGS), whole-exome sequencing (WES) and array genotyping with imputation (IMP) are common strategies for assessing genetic variation and its association with medically relevant phenotypes. To date, there has been no systematic empirical assessment of the yield of these approaches when applied to hundreds of thousands of samples to enable the discovery of complex trait genetic signals. Using data for 100 complex traits from 149,195 individuals in the UK Biobank, we systematically compare the relative yield of these strategies in genetic association studies.
View Article and Find Full Text PDFBackground: It is an unfortunate truth that Emergency Medicine (EM) physicians will, at some point, have contact with the medicolegal system. However, most EM residency training programs lack education on the legal system in their curriculum, leaving EM physicians unprepared for litigation. To fill this gap, we designed a high-yield and succinct medical legal workshop highlighting legal issues commonly encountered by EM physicians.
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