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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
BackgroundA major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five...
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Deep structured learning for variant prioritization in Mendelian diseases
Effective computer-aided or automated variant evaluations for monogenic diseases will expedite clinical diagnostic and research efforts of known and...
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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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VPMBench: a test bench for variant prioritization methods
BackgroundClinical diagnostics of whole-exome and whole-genome sequencing data requires geneticists to consider thousands of genetic variants for...
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A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
Genomic variant interpretation is a critical step of the diagnostic procedure, often supported by the application of tools that may predict the...
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Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization
BackgroundAs genomic studies continue to implicate non-coding sequences in disease, testing the roles of these variants requires insights into the...
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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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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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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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SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation
Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular if they affect transcripts only...
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Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
Background5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging...
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How severe would prioritization-induced bottlenecks need to be offset the benefits from prioritizing COVID-19 vaccination to those most at risk in New York City?
BackgroundPrioritization of higher-risk people for COVID-19 vaccination could prevent more deaths, but could slow vaccination speed. We used...
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Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization
With increasing utilization of comprehensive genomic data to guide clinical care, anticipated to become the standard of care in many clinical...
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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance,...
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Digital Transformation & Agile Prioritization
Digital transformation is the driver of agile prioritization. The central issue in overarching prioritization in the environment of IT projects is...
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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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Prioritization of genes associated with type 2 diabetes mellitus for functional studies
Existing therapies for type 2 diabetes mellitus (T2DM) show limited efficacy or have adverse effects. Numerous genetic variants associated with T2DM...
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Cost-effective learning-based strategies for test case prioritization in continuous integration of highly-configurable software
Highly-Configurable Software (HCSs) testing is usually costly, as a significant number of variants need to be tested. This becomes more problematic...
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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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Barriers of adopting quantum technology in blockchain: a prioritization-based framework
The advent of quantum technology holds significant transformative potential for blockchain systems, promising new realms of security, speed, and...
