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NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing dataAbstract Background Structural variants (SVs) play a causal role in numerous diseases but are difficult to detect and accurately genotype (determine zygosity) in whole-genome next-generation sequencing data. SV genotypers that assume that the aligned sequencing data uniformly reflect the underlying SV or use existing SV call sets as training data can only partially account for variant and sample-specific biases. Results We introduce NPSV, a machine learning–based approach for genotyping previously discovered SVs that uses next-generation sequencing simulation to model the combined effects of the genomic region, sequencer, and alignment pipeline on the observed SV evidence. We evaluate NPSV alongside existing SV genotypers on multiple benchmark call sets. We show that NPSV consistently achieves or exceeds state-of-the-art genotyping accuracy across SV call sets, samples, and variant types. NPSV can specifically identify putative de novo SVs in a trio context and is robust to offset SV breakpoints. Conclusions Growing SV databases and the increasing availability of SV calls from long-read sequencing make stand-alone genotyping of previously identified SVs an increasingly important component of genome analyses. By treating potential biases as a “black box” that can be simulated, NPSV provides a framework for accurately genotyping a broad range of SVs in both targeted and genome-scale applications.more » « less
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Yuen, Amy (, Journal of Peace Research)The mixed record on civil war termination shows that it is a difficult task, one fraught with uncertainty and risk. Gaining consent for peacekeeping is one strategy policymakers and scholars forward to reduce these concerns. Formal and informal work argues that allowing peacekeeping serves as a costly signal of peaceful intentions; however, these models treat peacekeeping costs as exogenous. I argue that peacekeeping costs have an endogenous element and use consent for peacekeeping missions as a proxy measure. Three conclusions are evident. It is difficult to determine whether belligerents are insincere actors in a peace process or merely distrustful, but consent can tell us whether a ceasefire is precarious and therefore more likely to fail; peacekeeping is difficult but meaningful under some conditions, and reliable information can be taken from negotiating, not just war-fighting. These results qualify the extent to which peacekeeping, with its changing emphasis on consent, can improve its outcomes.more » « less
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