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Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development
OBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of which are benign polymorphisms. Identifying rare...
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| Veröffentlicht in: | Clinics (Sao Paulo) |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Faculdade de Medicina / USP
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7811835/ https://ncbi.nlm.nih.gov/pubmed/33503178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6061/clinics/2021/e2052 |
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