Population science is a field of epidemiology focuses on why some populations are healthier than others. Population scientists use the information learned when comparing the health of populations to research ways to improve health.
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Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defect...
The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability...
The program "The Universal Definition of MI & Troponin, Clearing the confusion" is intended to review the recently released Third Universal Definition of Myocardial Infarction and aims to fam...