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Calculating the statistical significance of rare variants causal for Mendelian and complex disorders
BACKGROUND: With the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual DNA variation. To calculate the significance of finding a rare protein-altering variant in a given gene, one must know the f...
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| Veröffentlicht in: | BMC Med Genomics |
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| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6001062/ https://ncbi.nlm.nih.gov/pubmed/29898714 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0371-9 |
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