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Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders
BackgroundIn the process of finding the causative variant of rare diseases, accurate assessment and prioritization of genetic variants is essential....
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Defining operational research priorities to improve malaria control and elimination in sub-Saharan Africa: results from a country-driven research prioritization setting process
BackgroundIn order to reignite gains and accelerate progress toward improved malaria control and elimination, policy, strategy, and operational...
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Harnessing large language models (LLMs) for candidate gene prioritization and selection
BackgroundFeature selection is a critical step for translating advances afforded by systems-scale molecular profiling into actionable clinical...
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
BackgroundWhole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions....
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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Rare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced...
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A Strep A vaccine global demand and return on investment forecast to inform industry research and development prioritization
Investment in Strep A vaccine R&D is disproportionately low relative to the large burden of Strep A diseases globally. This study presents a novel...
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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
BackgroundRapidly and efficiently identifying critically ill infants for whole genome sequencing (WGS) is a costly and challenging task currently...
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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis...
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A practical approach for geographic prioritization and targeting of insecticide-treated net distribution campaigns during public health emergencies and in resource-limited settings
BackgroundThe use of data in targeting malaria control efforts is essential for optimal use of resources. This work provides a practical mechanism...
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From hazard to risk prioritization: a case study to predict drug-induced cholestasis using physiologically based kinetic modeling
Cholestasis is characterized by hepatic accumulation of bile acids. Clinical manifestation of cholestasis only occurs in a small proportion of...
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An approach for mixture testing and prioritization based on common kinetic groups
In light of an ever-increasing exposure to chemicals, the topic of potential mixture toxicity has gained increased attention, particularly as the...
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GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation
BackgroundVariant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually...
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Multi-ancestry genome-wide association study of major depression aids locus discovery, fine map**, gene prioritization and causal inference
Most genome-wide association studies (GWAS) of major depression (MD) have been conducted in samples of European ancestry. Here we report a...
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Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference
Mendelian randomization is a powerful method for inferring causal relationships. However, obtaining suitable genetic instrumental variables is often...
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Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells
Genome-wide association studies (GWASs) have uncovered hundreds of autoimmune disease-associated loci; however, the causal genetic variants within...
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Prioritization of therapeutic targets for cancers using integrative multi-omics analysis
BackgroundThe integration of transcriptomic, proteomic, druggable genetic and metabolomic association studies facilitated a comprehensive...
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A framework and process for community-engaged, mixed-methods cancer needs assessments
PurposeCommunity health needs assessments are required for most state and local public health agencies and non-profit hospitals. Typically based on...
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Comparing prioritization strategies for delivering indoor residual spray (IRS) implementation, using a network approach
BackgroundIndoor residual spraying (IRS) is an effective method to control malaria-transmitting Anopheles mosquitoes and often complements...
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Laundering CNV data for candidate process prioritization in brain disorders
BackgroundPrioritization of genomic data has become a useful tool for uncovering the phenotypic effect of genetic variations (e.g. copy number...
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Fluorescence of D-Glucose-Derived Carbon Dots: Effect of Process Parameters
The aim of this study was to synthesize highly fluorescent carbon dots (CDs) from glucose using a microwave hydrothermal method. It explored the...
