Artículo de revisión
Published on 21 de agosto de 2026 | http://doi.org/10.5867/medwave.2026.07.3225
Application of genomic bioinformatic tools in clinical psychiatry and counseling
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Description of pathogenicity criteria.
| Review of genomic repositories (such as OMIM or ClinVar) to determine whether a variant has been previously reported, whether it is associated with known diseases, and whether its pathogenicity has been established by the scientific community. | For the | |
| Analysis of the family pedigree to determine whether the variant segregates with the disease; that is, whether all affected relatives carry the mutation whereas unaffected relatives do not. | For the C>A variant, this criterion ruled out pathogenicity because the mother carried the variant whereas the father did not. | |
| Evaluation of the frequency of the variant in the general population. Variants with a frequency greater than 5% are considered benign, whereas extremely rare or absent variants suggest pathogenicity. | Neither the C>A nor the C>T variant had allele frequency data available in gnomAD, supporting their potential pathogenicity. | |
| Computational prediction of the impact of the variant at different biological levels, from transcription to protein formation. | Analysis of the C>A variant using PolyPhen-2 classified it as | |
| Comparison of the genetic sequence across different species. A region that is highly conserved among species is likely to have an important biological function; therefore, mutations affecting that region are more likely to be pathogenic. | For the C>T variant, the affected region was identical in chimpanzees and partially conserved in cats and pufferfish, strengthening the evidence that the mutation is deleterious. |
OMIM, Online Mendelian Inheritance in Man.
Source: Prepared by the authors based on Richards et al. [6].