Louise Young, Daniel B Lindsay, Robin A Ray
What do beginning students, in a rurally focused medical course, think about rural practice?
BMC medical education
emergence large realworld clinical databases tools mine electronic medical records allowed unprecedented look large data sets clinical epidemiologic correlates clinical cancer genetics realworld databases allow investigation prevalence effectiveness prevention strategies targeted treatments identification barriers better outcomes however realworld data sets inherent biases problems eg selection bias incomplete data measurement error may hamper adequate analysis affect statistical power leverage realworld clinical data set large health network patients breast cancer tested variants brca1 brca2 n 12423 conducted data cleaning harmonization crossreferenced publicly available databases performed variant reassessment functional assays used functional data inform variants clinical significance applying american college medical geneticists association molecular pathology guidelines cohort white black patients overrepresented whereas nonwhite hispanic asian patients underrepresented incorrect missing variant designations significant contributor data loss manual curation corrected many incorrect designations sizable fraction patient carriers remained incorrect missing variant designations despite large number patients clinical significance reported original reported clinical significance assessments accurate reassessment variants clinical significance reported led marked improvement data quality identify common issues brca1 brca2 testing data entry suggest approaches minimize data loss keep interpretation clinical significance variants date