OARD: Open annotations for rare diseases and their phenotypes based on real-world data.

Diagnosis for rare genetic diseases often relies on phenotype-driven methods, which hinge on the accuracy and completeness of the rare disease phenotypes in the underlying annotation knowledgebase. Existing knowledgebases are often manually curated with additional annotations found in published case reports. Despite their potential, real-world data such as electronic health records (EHRs) have not been fully exploited to derive rare disease annotations. Here, we present open annotation for rare diseases (OARD), a real-world-data-derived resource with annotation for rare-disease-related phenotypes. This resource is derived from the EHRs of two academic health institutions containing more than 10 million individuals spanning wide age ranges and different disease subgroups. By leveraging ontology mapping and advanced natural-language-processing (NLP) methods, OARD automatically and efficiently extracts concepts for both rare diseases and their phenotypic traits from billing codes and lab tests as well as over 100 million clinical narratives. The rare disease prevalence derived by OARD is highly correlated with those annotated in the original rare disease knowledgebase. By performing association analysis, we identified more than 1 million novel disease-phenotype association pairs that were previously missed by human annotation, and >60% were confirmed true associations via manual review of a list of sampled pairs. Compared to the manual curated annotation, OARD is 100% data driven and its pipeline can be shared across different institutions. By supporting privacy-preserving sharing of aggregated summary statistics, such as term frequencies and disease-phenotype associations, it fills an important gap to facilitate data-driven research in the rare disease community.

NeuronBridge: an intuitive web application for neuronal morphology search across large data sets.

BACKGROUND: Neuroscience research in Drosophila is benefiting from large-scale connectomics efforts using electron microscopy (EM) to reveal all the neurons in a brain and their connections. To exploit this knowledge base, researchers relate a connectome's structure to neuronal function, often by studying individual neuron cell types. Vast libraries of fly driver lines expressing fluorescent reporter genes in sets of neurons have been created and imaged using confocal light microscopy (LM), enabling the targeting of neurons for experimentation. However, creating a fly line for driving gene expression within a single neuron found in an EM connectome remains a challenge, as it typically requires identifying a pair of driver lines where only the neuron of interest is expressed in both. This task and other emerging scientific workflows require finding similar neurons across large data sets imaged using different modalities. RESULTS: Here, we present NeuronBridge, a web application for easily and rapidly finding putative morphological matches between large data sets of neurons imaged using different modalities. We describe the functionality and construction of the NeuronBridge service, including its user-friendly graphical user interface (GUI), extensible data model, serverless cloud architecture, and massively parallel image search engine. CONCLUSIONS: NeuronBridge fills a critical gap in the Drosophila research workflow and is used by hundreds of neuroscience researchers around the world. We offer our software code, open APIs, and processed data sets for integration and reuse, and provide the application as a service at http://neuronbridge.janelia.org .

Repeat it without me: Crowdsourcing the T1 mapping common ground via the ISMRM reproducibility challenge.

PURPOSE: T1 mapping is a widely used quantitative MRI technique, but its tissue-specific values remain inconsistent across protocols, sites, and vendors. The ISMRM Reproducible Research and Quantitative MR study groups jointly launched a challenge to assess the reproducibility of a well-established inversion-recovery T1 mapping technique, using acquisition details from a seminal T1 mapping paper on a standardized phantom and in human brains. METHODS: The challenge used the acquisition protocol from Barral et al. (2010). Researchers collected T1 mapping data on the ISMRM/NIST phantom and/or in human brains. Data submission, pipeline development, and analysis were conducted using open-source platforms. Intersubmission and intrasubmission comparisons were performed. RESULTS: Eighteen submissions (39 phantom and 56 human datasets) on scanners by three MRI vendors were collected at 3 T (except one, at 0.35 T). The mean coefficient of variation was 6.1% for intersubmission phantom measurements, and 2.9% for intrasubmission measurements. For humans, the intersubmission/intrasubmission coefficient of variation was 5.9/3.2% in the genu and 16/6.9% in the cortex. An interactive dashboard for data visualization was also developed: https://rrsg2020.dashboards.neurolibre.org. CONCLUSION: The T1 intersubmission variability was twice as high as the intrasubmission variability in both phantoms and human brains, indicating that the acquisition details in the original paper were insufficient to reproduce a quantitative MRI protocol. This study reports the inherent uncertainty in T1 measures across independent research groups, bringing us one step closer to a practical clinical baseline of T1 variations in vivo.

The Coastal Carbon Library and Atlas: Open source soil data and tools supporting blue carbon research and policy.

Quantifying carbon fluxes into and out of coastal soils is critical to meeting greenhouse gas reduction and coastal resiliency goals. Numerous 'blue carbon' studies have generated, or benefitted from, synthetic datasets. However, the community those efforts inspired does not have a centralized, standardized database of disaggregated data used to estimate carbon stocks and fluxes. In this paper, we describe a data structure designed to standardize data reporting, maximize reuse, and maintain a chain of credit from synthesis to original source. We introduce version 1.0.0. of the Coastal Carbon Library, a global database of 6723 soil profiles representing blue carbon-storing systems including marshes, mangroves, tidal freshwater forests, and seagrasses. We also present the Coastal Carbon Atlas, an R-shiny application that can be used to visualize, query, and download portions of the Coastal Carbon Library. The majority (4815) of entries in the database can be used for carbon stock assessments without the need for interpolating missing soil variables, 533 are available for estimating carbon burial rate, and 326 are useful for fitting dynamic soil formation models. Organic matter density significantly varied by habitat with tidal freshwater forests having the highest density, and seagrasses having the lowest. Future work could involve expansion of the synthesis to include more deep stock assessments, increasing the representation of data outside of the U.S., and increasing the amount of data available for mangroves and seagrasses, especially carbon burial rate data. We present proposed best practices for blue carbon data including an emphasis on disaggregation, data publication, dataset documentation, and use of standardized vocabulary and templates whenever appropriate. To conclude, the Coastal Carbon Library and Atlas serve as a general example of a grassroots F.A.I.R. (Findable, Accessible, Interoperable, and Reusable) data effort demonstrating how data producers can coordinate to develop tools relevant to policy and decision-making.

Preregistered Replication and Extension of "Moral Hypocrisy: Social Groups and the Flexibility of Virtue".

The tendency for people to consider themselves morally good while behaving selfishly is known as moral hypocrisy. Influential work by Valdesolo and DeSteno (2007) found evidence for intergroup moral hypocrisy such that people were more forgiving of transgressions when they were committed by an in-group member than an out-group member. We conducted two experiments to examine moral hypocrisy and group membership in an online paradigm with Prolific workers from the United States: a direct replication of the original work with minimal groups (N = 610; nationally representative) and a conceptual replication with political groups (N = 606; 50% Democrats and 50% Republicans). Although the results did not replicate the original findings, we observed evidence of in-group favoritism in minimal groups and out-group derogation in political groups. The current research finds mixed evidence of intergroup moral hypocrisy and has implications for understanding the contextual dependencies of intergroup bias and partisanship.

Ambivalent Sexism and Tolerance of Violence Against Women in India.

We examined associations between sexist beliefs and tolerance of violence against women in India using a nationally representative probability sample of adults (n = 133,398). Research consistently indicates that hostile sexism fosters tolerance of violence against women. However, benevolent sexism is sometimes associated with higher tolerance and sometimes with lower tolerance of violence. We proposed that this inconsistency could be resolved by considering the source of violence: Is violence perpetrated by outsiders or intimate partners? Results of a multigroup structural equation model showed that endorsement of hostile sexism was related to greater tolerance of violence regardless of the source. In contrast, endorsement of benevolent sexism was associated with lower tolerance of violence from outsiders but was simultaneously associated with higher tolerance of spousal violence. These opposing processes indicate that although benevolent sexism promises women protection from violence, the very same ideology legitimizes spousal violence, thereby reinforcing men's power within intimate relationships.

Caricaturing Shapes in Visual Memory.

When representing high-level stimuli, such as faces and animals, we tend to emphasize salient features-such as a face's prominent cheekbones or a bird's pointed beak. Such mental caricaturing leaves traces in memory, which exaggerates these distinctive qualities. How broadly does this phenomenon extend? Here, in six experiments (N = 700 adults), we explored how memory automatically caricatures basic units of visual processing-simple geometric shapes-even without task-related demands to do so. Participants saw a novel shape and then immediately adjusted a copy of that shape to match what they had seen. Surprisingly, participants reconstructed shapes in exaggerated form, amplifying curvature, enlarging salient parts, and so on. Follow-up experiments generalized this bias to new parameters, ruled out strategic responding, and amplified the effects in serial transmission. Thus, even the most basic stimuli we encounter are remembered as caricatures of themselves.

When and Why People Conceal Infectious Disease.

People sick with infectious illnesses face negative social outcomes, like exclusion, and may take steps to conceal their illnesses from others. In 10 studies of past, current, and projected illness, we examined the prevalence and predictors of infection concealment in adult samples of U.S. university students, health-care employees, and online crowdsourced workers (total N = 4,110). About 75% reported concealing illness in interpersonal interactions, possibly placing others in harm's way. Concealment motives were largely social (e.g., wanting to attend events like parties) and achievement oriented (e.g., completing work objectives). Disease characteristics, including potential harm and illness immediacy, also influenced concealment decisions. People imagining harmful (vs. mild) infections concealed illness less frequently, whereas participants who were actually sick concealed frequently regardless of illness harm, suggesting state-specific biases underlying concealment decisions. Disease concealment appears to be a widely prevalent behavior by which concealers trade off risks to others in favor of their own goals, creating potentially important public-health consequences.

Perceptions of Falling Behind "Most White People": Within-Group Status Comparisons Predict Fewer Positive Emotions and Worse Health Over Time Among White (but Not Black) Americans.

Despite the persistence of anti-Black racism, White Americans report feeling worse off than Black Americans. We suggest that some White Americans may report low well-being despite high group-level status because of perceptions that they are falling behind their in-group. Using census-based quota sampling, we measured status comparisons and health among Black (N = 452, Wave 1) and White (N = 439, Wave 1) American adults over a period of 6 to 7 weeks. We found that Black and White Americans tended to make status comparisons within their own racial groups and that most Black participants felt better off than their racial group, whereas most White participants felt worse off than their racial group. Moreover, we found that White Americans' perceptions of falling behind "most White people" predicted fewer positive emotions at a subsequent time, which predicted worse sleep quality and depressive symptoms in the future. Subjective within-group status did not have the same consequences among Black participants.

Dissociable Codes in Motor Working Memory.

Working memory has been comprehensively studied in sensory domains, like vision, but little attention has been paid to how motor information (e.g., kinematics of recent movements) is maintained and manipulated in working memory. "Motor working memory" (MWM) is important for short-term behavioral control and skill learning. Here, we employed tasks that required participants to encode and recall reaching movements over short timescales. We conducted three experiments (N = 65 undergraduates) to examine MWM under varying cognitive loads, delays, and degrees of interference. The results support a model of MWM that includes an abstract code that flexibly transfers across effectors, and an effector-specific code vulnerable to interfering movements, even when interfering movements are irrelevant to the task. Neither code was disrupted by increasing visuospatial working memory load. These results echo distinctions between representational formats in other domains, suggesting that MWM shares a basic computational structure with other working memory subsystems.

Can Invalid Information Be Ignored When It Is Detected?

With the rapid spread of information via social media, individuals are prone to misinformation exposure that they may utilize when forming beliefs. Over five experiments (total N = 815 adults, recruited through Amazon Mechanical Turk in the United States), we investigated whether people could ignore quantitative information when they judged for themselves that it was misreported. Participants recruited online viewed sets of values sampled from Gaussian distributions to estimate the underlying means. They attempted to ignore invalid information, which were outlier values inserted into the value sequences. Results indicated participants were able to detect outliers. Nevertheless, participants' estimates were still biased in the direction of the outlier, even when they were most certain that they detected invalid information. The addition of visual warning cues and different task scenarios did not fully eliminate systematic over- and underestimation. These findings suggest that individuals may incorporate invalid information they meant to ignore when forming beliefs.

Investigating Inattentional Blindness Through the Lens of Fear Chemosignals.

Inattentional blindness is a phenomenon wherein people fail to perceive obvious stimuli within their vision, sometimes leading to dramatic consequences. Research on the effects of fear chemosignals suggests that they facilitate receivers' sensory acquisition. We aimed to examine the interplay between these phenomena, investigating whether exposure to fear chemosignals (vs. rest body odors) can reduce the inattentional-blindness handicap. Utilizing a virtual-reality aquarium, we asked participants to count how many morsels a school of fish consumed while two unexpected stimuli swam by. We predicted that participants exposed to fear chemosignals (N = 131) would detect unexpected stimuli significantly more often than participants exposed to rest body odors (N = 125). All participants were adult Portuguese university students aged 18 to 40 years. The results confirmed our hypothesis, χ2(1) = 6.10, p = .014, revealing that exposure to fear chemosignals significantly increased the detection of unexpected stimuli by about 10%. The implications of our findings open a novel avenue for reducing the adverse consequences of inattentional blindness.

Does Physiological Arousal Increase Social Transmission of Information? Two Replications of Berger (2011).

People share information for many reasons. For example, Berger (2011, N = 40) found that undergraduate participants manipulated to have higher physiological arousal were more likely to share a news article with others via email than people who had low arousal. Berger's research is widely cited as evidence of the causal role of arousal in sharing information and has been used to explain why information that induces high-arousal emotions is shared more than information that induces low-arousal emotions. We conducted two replications (N = 111, N = 160) of Berger's study, using the same arousal manipulation but updating the sharing measure to reflect the rise of information sharing through social media. Both studies failed to find an impact of incidental physiological arousal on undergraduate participants' willingness to share news articles on social media. Our studies cast doubt on the idea that incidental physiological arousal-in the absence of other factors-impacts people's decisions to share information on social networking sites.

Not All Powerful People Are Created Equal: An Examination of Gender and Pathways to Social Hierarchy Through the Lens of Social Cognition.

Across four studies (N = 816 U.S. adults), we uncovered a gender stereotype about dual pathways to social hierarchy: Men were associated with power, and women were associated with status. We detected this pattern both explicitly and implicitly in perceptions of individuals drawn from Forbes magazine's powerful people lists in undergraduate and online samples. We examined social-cognitive implications, including prominent people's degree of recognition by individuals and society, and the formation of men's and women's self-concepts. We found that power (status) ratings predicted greater recognition of men (women) and lesser recognition of women (men). In terms of the self-concept, we found that women internalized the stereotype associating women with status more than power implicitly and explicitly. Although men explicitly reported having less status and more power than women, men implicitly associated the self with status as much as power. No gender differences emerged in the desires for power and status.

Learning From Aggregated Opinion.

The capacity to leverage information from others' opinions is a hallmark of human cognition. Consequently, past research has investigated how we learn from others' testimony. Yet a distinct form of social information-aggregated opinion-increasingly guides our judgments and decisions. We investigated how people learn from such information by conducting three experiments with participants recruited online within the United States (N = 886) comparing the predictions of three computational models: a Bayesian solution to this problem that can be implemented by a simple strategy for combining proportions with prior beliefs, and two alternatives from epistemology and economics. Across all studies, we found the strongest concordance between participants' judgments and the predictions of the Bayesian model, though some participants' judgments were better captured by alternative strategies. These findings lay the groundwork for future research and show that people draw systematic inferences from aggregated opinion, often in line with a Bayesian solution.

Exploration, Distributed Attention, and Development of Category Learning.

Category learning is a crucial aspect of cognition that involves organizing entities into equivalence classes. Whereas adults tend to focus on category-relevant features, young children often distribute attention between relevant and irrelevant ones. The reasons for children's distributed attention are not fully understood. In two category-learning experiments with adults and with children aged 4, 5, and 6 (N = 201), we examined potential drivers of distributed attention, including (a) immature filtering of distractors and (b) the general tendency for exploration or broad information sampling. By eliminating distractor competition, we reduced filtering demands. Despite identifying the features critical for accurate categorization, children, regardless of their categorization performance, continued sampling more information than was necessary. These results indicate that the tendency to sample information extensively contributes to distributed attention in young children. We identify candidate drivers of this tendency that need to be examined in future research.

Electroencephalogram Decoding Reveals Distinct Processes for Directing Spatial Attention and Encoding Into Working Memory.

Past work reveals a tight relationship between spatial attention and storage in visual working memory. But is spatially attending an item tantamount to working memory encoding? Here, we tracked electroencephalography (EEG) signatures of spatial attention and working memory encoding while independently manipulating the number of memory items and the spatial extent of attention in two studies of adults (N = 39; N = 33). Neural measures of spatial attention tracked the position and size of the attended area independent of the number of individuated items encoded into working memory. At the same time, multivariate decoding of the number of items stored in working memory was insensitive to variations in the breadth and position of spatial attention. Finally, representational similarity analyses provided converging evidence for a pure load signal that is insensitive to the spatial extent of the stored items. Thus, although spatial attention is a persistent partner of visual working memory, it is functionally dissociable from the selection and maintenance of individuated representations in working memory.

Children Sustain Cooperation in a Threshold Public-Goods Game Even When Seeing Others' Outcomes.

Many societal challenges are threshold dilemmas requiring people to cooperate to reach a threshold before group benefits can be reaped. Yet receiving feedback about others' outcomes relative to one's own (relative feedback) can undermine cooperation by focusing group members' attention on outperforming each other. We investigated the impact of relative feedback compared to individual feedback (only seeing one's own outcome) on cooperation in children from Germany and India (6- to 10-year-olds, N = 240). Using a threshold public-goods game with real water as a resource, we show that, although feedback had an effect, most groups sustained cooperation at high levels in both feedback conditions until the end of the game. Analyses of children's communication (14,374 codable utterances) revealed more references to social comparisons and more verbal efforts to coordinate in the relative-feedback condition. Thresholds can mitigate the most adverse effects of social comparisons by focusing attention on a common goal.

Divergent and Convergent Creativity Are Different Kinds of Foraging.

According to accounts of neural reuse and embodied cognition, higher-level cognitive abilities recycle evolutionarily ancient mechanisms for perception and action. Here, building on these accounts, we investigate whether creativity builds on our capacity to forage in space ("creativity as strategic foraging"). We report systematic connections between specific forms of creative thinking-divergent and convergent-and corresponding strategies for searching in space. U.S. American adults completed two tasks designed to measure creativity. Before each creativity trial, participants completed an unrelated search of a city map. Between subjects, we manipulated the search pattern, with some participants seeking multiple, dispersed spatial locations and others repeatedly converging on the same location. Participants who searched divergently in space were better at divergent thinking but worse at convergent thinking; this pattern reversed for participants who had converged repeatedly on a single location. These results demonstrate a targeted link between foraging and creativity, thus advancing our understanding of the origins and mechanisms of high-level cognition.

Neural Signatures of Evidence Accumulation Encode Subjective Perceptual Confidence Independent of Performance.

Confidence is an adaptive computation when environmental feedback is absent, yet there is little consensus regarding how perceptual confidence is computed in the brain. Difficulty arises because confidence correlates with other factors, such as accuracy, response time (RT), or evidence quality. We investigated whether neural signatures of evidence accumulation during a perceptual choice predict subjective confidence independently of these factors. Using motion stimuli, a central-parietal positive-going electroencephalogram component (CPP) behaves as an accumulating decision variable that predicts evidence quality, RT, accuracy, and confidence (Experiment 1, N = 25 adults). When we psychophysically varied confidence while holding accuracy constant (Experiment 2, N = 25 adults), the CPP still predicted confidence. Statistically controlling for RT, accuracy, and evidence quality (Experiment 3, N = 24 adults), the CPP still explained unique variance in confidence. The results indicate that a predecision neural signature of evidence accumulation, the CPP, encodes subjective perceptual confidence in decision-making independent of task performance.