Calculating the statistical significance of rare variants causal for Mendelian and complex disorders
Abstract 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 kn...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2018-06-01
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| coleção: | BMC Medical Genomics |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s12920-018-0371-9 |
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