Tandem repeats (TRs) represent one of the largest sources of genetic variation in humans and are implicated in a range of phenotypes. Here we present a deep characterization of TR variation based on high coverage whole genome sequencing from 3,550 diverse individuals from the 1000 Genomes Project and H3Africa cohorts. We develop a method, EnsembleTR, to integrate genotypes from four separate methods resulting in high-quality genotypes at more than 1.7 million TR loci. Our catalog reveals novel sequence features influencing TR heterozygosity, identifies population-specific trinucleotide expansions, and finds hundreds of novel eQTL signals. Finally, we generate a phased haplotype panel which can be used to impute most TRs from nearby single nucleotide polymorphisms (SNPs) with high accuracy. Overall, the TR genotypes and reference haplotype panel generated here will serve as valuable resources for future genome-wide and population-wide studies of TRs and their role in human phenotypes.
Memory imprints of the significance of relationships are constantly evolving. They are boosted by social interactions among people involved in relationships, and decay between such events, causing the relationships to change. Despite the importance of the evolution of relationships in social networks, there is little work exploring how interactions over extended periods correlate with people's memory imprints of relationship importance. In this paper, we represent memory dynamics by adapting a well-known cognitive science model. Using two unique longitudinal datasets, we fit the model's parameters to maximize agreement of the memory imprints of relationship strengths of a node predicted from call detail records with the ground-truth list of relationships of this node ordered by their strength. We find that this model, trained on one population, predicts not only on this population but also on a different one, suggesting the universality of memory imprints of social interactions among unrelated individuals. This paper lays the foundation for studying the modeling of social interactions as memory imprints, and its potential use as an unobtrusive tool to early detection of individuals with memory malfunctions.
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