Variation (astronomy)
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Schizophrenia risk from complex variation of complement component 4 Open
Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms. Schizophrenia's strongest genetic association at a population level involves variation in the major histocompatibility complex (MHC) locus, but the genes and mo…
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VarSome: the human genomic variant search engine Open
Summary VarSome.com is a search engine, aggregator and impact analysis tool for human genetic variation and a community-driven project aiming at sharing global expertise on human variants. Availability and implementation VarSome is freely …
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Progressive Growing of GANs for Improved Quality, Stability, and Variation Open
We describe a new training methodology for generative adversarial networks. The key idea is to grow both the generator and discriminator progressively: starting from a low resolution, we add new layers that model increasingly fine details …
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InfoGAN: Interpretable Representation Learning by Information Maximizing Generative Adversarial Nets Open
This paper describes InfoGAN, an information-theoretic extension to the Generative Adversarial Network that is able to learn disentangled representations in a completely unsupervised manner. InfoGAN is a generative adversarial network that…
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The Impacts of Neighborhoods on Intergenerational Mobility I: Childhood Exposure Effects* Open
We show that the neighborhoods in which children grow up shape their earnings, college attendance rates, and fertility and marriage patterns by studying more than 7 million families who move across commuting zones and counties in the Unite…
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Many Labs 2: Investigating Variation in Replicability Across Samples and Settings Open
We conducted preregistered replications of 28 classic and contemporary published findings, with protocols that were peer reviewed in advance, to examine variation in effect magnitudes across samples and settings. Each protocol was administ…
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Insights into human genetic variation and population history from 929 diverse genomes Open
Genomes from around the globe Genomic sequencing of diverse human populations to understand overall genetic diversity has lagged behind in-depth examination of specific populations. To add to our understanding of human genetic diversity, B…
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scMC learns biological variation through the alignment of multiple single-cell genomics datasets Open
Distinguishing biological from technical variation is crucial when integrating and comparing single-cell genomics datasets across different experiments. Existing methods lack the capability in explicitly distinguishing these two variations…
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Many Analysts, One Data Set: Making Transparent How Variations in Analytic Choices Affect Results Open
Twenty-nine teams involving 61 analysts used the same data set to address the same research question: whether soccer referees are more likely to give red cards to dark-skin-toned players than to light-skin-toned players. Analytic approache…
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JBrowse 2: a modular genome browser with views of synteny and structural variation Open
We present JBrowse 2, a general-purpose genome annotation browser offering enhanced visualization of complex structural variation and evolutionary relationships. It retains core features of JBrowse while adding new views for synteny, dotpl…
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Efficient Coalescent Simulation and Genealogical Analysis for Large Sample Sizes Open
A central challenge in the analysis of genetic variation is to provide realistic genome simulation across millions of samples. Present day coalescent simulations do not scale well, or use approximations that fail to capture important long-…
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Meta-Analysis of Inquiry-Based Learning Open
Research has consistently shown that inquiry-based learning can be more effective than other, more expository instructional approaches as long as students are supported adequately. But what type of guidance is adequate, and for whom? These…
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Difference-in-Differences with Variation in Treatment Timing Open
The canonical difference-in-differences (DD) model contains two time periods, "pre" and "post", and two groups, "treatment" and "control".Most DD applications, however, exploit variation across groups of units that receive treatment at dif…
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A Style-Based Generator Architecture for Generative Adversarial Networks Open
We propose an alternative generator architecture for generative adversarial networks, borrowing from style transfer literature. The new architecture leads to an automatically learned, unsupervised separation of high-level attributes (e.g.,…
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Haplotype-resolved diverse human genomes and integrated analysis of structural variation Open
Resolving genomic structural variation Many human genomes have been reported using short-read technology, but it is difficult to resolve structural variants (SVs) using these data. These genomes thus lack comprehensive comparisons among in…
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RNA splicing is a primary link between genetic variation and disease Open
RNA splicing links genetics to disease Many genetic variants associated with disease have no apparent effect on any specific protein coding sequence. Li et al. systematically analyzed the effects of DNA variants on the main steps of gene r…
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Language models enable zero-shot prediction of the effects of mutations on protein function Open
Modeling the effect of sequence variation on function is a fundamental problem for understanding and designing proteins. Since evolution encodes information about function into patterns in protein sequences, unsupervised models of variant …
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Contingency and determinism in evolution: Replaying life’s tape Open
Replaying the tape of life The evolutionary biologist Stephen Jay Gould once dreamed about replaying the tape of life in order to identify whether evolution is more subject to deterministic or contingent forces. Greater influence of determ…
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Beyond the ‘east–west’ dichotomy: Global variation in cultural models of selfhood. Open
Markus and Kitayama's (1991) theory of independent and interdependent self-construals had a major influence on social, personality, and developmental psychology by highlighting the role of culture in psychological processes. However, resea…
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Systematic Reviews in Educational Research: Methodology, Perspectives and Application Open
This chapter explores the processes of reviewing literature as a research method. The logic of the family of research approaches called systematic review is analysed and the variation in techniques used in the different approaches explored…
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Mapping HIV prevalence in sub-Saharan Africa between 2000 and 2017 Open
HIV/AIDS is a leading cause of disease burden in sub-Saharan Africa. Existing evidence has demonstrated that there is substantial local variation in the prevalence of HIV; however, subnational variation has not been investigated at a high …
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Quantity, controls and functions of large woody debris in midwestern USA streams Open
Large woody debris (LWD) can increase stream habitat heterogeneity by providing structure, altering flow patterns, enhancing sediment deposition, forming pools and retaining organic matter. In North America, the role of LWD has been studie…
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Variation in recombination frequency and distribution across eukaryotes: patterns and processes Open
Recombination, the exchange of DNA between maternal and paternal chromosomes during meiosis, is an essential feature of sexual reproduction in nearly all multicellular organisms. While the role of recombination in the evolution of sex has …
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Coding Variation in <i>ANGPTL4,</i> <i>LPL,</i> and <i>SVEP1</i> and the Risk of Coronary Disease Open
We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the Nationa…
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The crucial role of genome-wide genetic variation in conservation Open
The unprecedented rate of extinction calls for efficient use of genetics to help conserve biodiversity. Several recent genomic and simulation-based studies have argued that the field of conservation biology has placed too much focus on con…
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The International Genome Sample Resource (IGSR) collection of open human genomic variation resources Open
To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established. It is built on the foundation of the 1000 Genomes Project, which c…
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Attentive Statistics Pooling for Deep Speaker Embedding Open
This paper proposes attentive statistics pooling for deep speaker embedding\nin text-independent speaker verification. In conventional speaker embedding,\nframe-level features are averaged over all the frames of a single utterance to\nform…
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Ensembl variation resources Open
The major goal of sequencing humans and many other species is to understand the link between genomic variation, phenotype and disease. There are numerous valuable and well-established variation resources, but collating and making sense of …
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Sources of Geographic Variation in Health Care: Evidence From PatientMigration* Open
We study the drivers of geographic variation in U.S. health care utilization, using an empirical strategy that exploits migration of Medicare patients to separate the role of demand and supply factors. Our approach allows us to account for…
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Climate Econometrics Open
Identifying the effect of climate on societies is central to understanding historical economic development, designing modern policies that react to climatic events, and managing future global climate change. Here, I review, synthesize, and…