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Keyword

variant pathogenicity

Description: Variant pathogenicity is the degree to which a genetic variant contributes to disease, assessed through clinical, computational, or functional evidence.
OpenAlex ID: keywords/variant-pathogenicity
Analysis of protein-coding genetic variation in 60,706 humans
2016 · Monkol Lek, Konrad J. Karczewski, et al. · Nature · 9,586
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Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 · Jun Cheng, Guido Novati, et al. · Science · 2,110
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
2008 · Daniel G Healy, Mario Falchi, et al. · The Lancet Neurology · 1,525
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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
2013 · Slavé Petrovski, Quanli Wang, et al. · PLoS Genetics · 899
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
2016 · Roddy Walsh, Kate L. Thomson, et al. · Genetics in Medicine · 734
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AnnotSV: an integrated tool for structural variations annotation
2018 · Véronique Geoffroy, Yvan Herenger, et al. · Bioinformatics · 473
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Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease
2007 · Sandro Rossetti, Mark B. Consugar, et al. · Journal of the American Society of Nephrology · 440
Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
2010 · Sarah E. Flanagan, Ann-Marie Patch, et al. · Genetic Testing and Molecular Biomarkers · 418
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
2019 · Stephen F. Kingsmore, Julie A. Cakici, et al. · The American Journal of Human Genetics · 352
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Differentiating Primary, Genetic, and Secondary FSGS in Adults: A Clinicopathologic Approach
2018 · An S. De Vriese, Sanjeev Sethi, et al. · Journal of the American Society of Nephrology · 318
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
2012 · Erik G. Puffenberger, Robert N. Jinks, et al. · PLoS ONE · 309
Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
2011 · Tara Klassen, Caleb Davis, et al. · Cell · 300
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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
2015 · R Bachmann-Gagescu, J C Dempsey, et al. · Journal of Medical Genetics · 291
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AlphaFold Protein Structure Database and 3D-Beacons: New Data and Capabilities
2025 · Jennifer Fleming, Paulyna Magaña, et al. · Journal of Molecular Biology · 279
A general framework for estimating the relative pathogenicity of human genetic variants
2014 · Martin Kircher, Daniela Witten, et al. · F1000Research · 234
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
2019 · Martin Kircher, Chenling Xiong, et al. · Nature Communications · 233
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The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis
2022 · William B Hannah, Bryce A Seifert, et al. · The Lancet Respiratory Medicine · 223
SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome
2012 · Naresh Kumar Hanchate, Paolo Giacobini, et al. · PLoS Genetics · 218
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The genetic landscape of Parkinson's disease
2018 · A. Lunati, S. Lesage, et al. · Revue Neurologique · 215
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
2013 · Charlotte Andreasen, Jonas B Nielsen, et al. · European Journal of Human Genetics · 214
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
2019 · Caroline F. Wright, Ben West, et al. · The American Journal of Human Genetics · 212
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
2018 · Edgar A. Rivera‐Muñoz, Laura V. Milko, et al. · Human Mutation · 206
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A systematic approach to assessing the clinical significance of genetic variants
2013 · H Duzkale, J Shen, et al. · Clinical Genetics · 183
Mutations of the mitochondrial ND1 gene as a cause of MELAS
2004 · D M Kirby, R McFarland, et al. · Journal of Medical Genetics · 179
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Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants
2020 · Evgeny Z. Kvon, Yiwen Zhu, et al. · Cell · 176
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Works count: 2,393
Citation count: 42,830
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