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Mutation severity spectrum of rare alleles in the human genome is predictive of disease type
The human genome harbors a variety of genetic variations. Single-nucleotide changes that alter amino acids in protein-coding regions are one of the major causes of human phenotypic variation and diseases. These single-amino acid variations (SAVs) are routinely found in whole genome and exome sequenc...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255613/ https://www.ncbi.nlm.nih.gov/pubmed/32413045 http://dx.doi.org/10.1371/journal.pcbi.1007775 |