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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001062/ https://www.ncbi.nlm.nih.gov/pubmed/29898714 http://dx.doi.org/10.1186/s12920-018-0371-9 |