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Variant pathogenic prediction by locus variability: the importance of the current picture of evolution
Accurate detection of pathogenic single nucleotide variants (SNVs) is a key challenge in whole exome and whole genome sequencing studies. To date, several in silico tools have been developed to predict deleterious variants from this type of data. However, these tools have limited power to detect new...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9091277/ https://www.ncbi.nlm.nih.gov/pubmed/35079159 http://dx.doi.org/10.1038/s41431-021-01034-1 |