Revisiting the phenotypic gap – the value in absent phenotypes

Phenotypic bottleneck. This is another post in the “phenotypic atomism series,” what has become our lab’s philosophy in how we think about and work with longitudinal clinical data. However, before we introduce another dimension to the phenotypic atom, let me first revisit the idea of the “phenotypic bottleneck” – a concept that had piqued my interest three years ago and led me to join the lab. In brief, in contrast to established pipelines for large-scale analysis of sequencing data, our ability to analyze clinical data at scale remains more limited. As a result, phenotypic characterization lags behind gene discovery, even with tremendous progress in the last few years. A major challenge stems from the inherent nature of working with multi-dimensional longitudinal clinical data: it can be sparse and incomplete at times. However, how much of the unknown is truly unknown?

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