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On the probability that a novel variant is a disease-causing mutation
When a novel variant is found in a patient and not in a group of controls, it becomes a candidate for the disease-causing mutation in that patient. At present, no sampling theory exists for assessing the probability that the novel SNP might actually be a neutral variant. We have developed a populati...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1172040/ https://ncbi.nlm.nih.gov/pubmed/15965029 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.3761405 |
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