Tim Dunn

1. Introduction Genome sequencing, a key component of precision health, is necessary for early detection of cancer, autism, infectious diseases (such as COVID-19), and genetic diseases. With the innovation in genome sequencing technologies over the past decade, sequencing data is being generated more rapidly and at a lower cost, increasing at a rate that far outpaces Moore’s Law.

Abstract Accurately benchmarking small variant calling accuracy is critical for the continued improvement of human whole genome sequencing. In this work, we show that current variant calling evaluations are biased towards certain variant representations and may misrepresent the relative performance of different variant calling pipelines. We propose solutions, first exploring the affine gap parameter design space for complex variant representation and suggesting a standard.

This is the story of Britain’s model villages: miniature worlds that have captivated garden guests and paying public since the early twentieth century. This history of these small-scale utopias covers their early growth as playthings of the wealthy, their blossoming into fairylands on seafronts during the post-war holiday boom, and of many model villages’ gradual decline from toy-towns to ghost towns.