Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis
Abstract
:1. Introduction
2. Materials and Methods
2.1. Genetic Variant Data
2.2. Analysis of Genes for Enrichment of Genetic Variants with COIs
2.3. Analysis of Functional Properties of Genes Bearing COI Variants
2.4. Statistical Analysis
3. Results
3.1. Common Properties of Variants with Conflicting Interpretations of Pathogenicity
3.2. Properties of Genes with a High Proportion of COI Variants
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
COI | conflicting interpretations of pathogenicity |
HPO | Human Phenotype Ontology |
NGS | next-generation sequencing |
OMIM | Online Mendelian Inheritance in Man |
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Lazareva, T.E.; Barbitoff, Y.A.; Nasykhova, Y.A.; Glotov, A.S. Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis. J. Pers. Med. 2024, 14, 864. https://doi.org/10.3390/jpm14080864
Lazareva TE, Barbitoff YA, Nasykhova YA, Glotov AS. Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis. Journal of Personalized Medicine. 2024; 14(8):864. https://doi.org/10.3390/jpm14080864
Chicago/Turabian StyleLazareva, Tatyana E., Yury A. Barbitoff, Yulia A. Nasykhova, and Andrey S. Glotov. 2024. "Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis" Journal of Personalized Medicine 14, no. 8: 864. https://doi.org/10.3390/jpm14080864