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Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence
Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases from allele frequencies, provided one knows which mutations are causal. We tested this idea on a rare, monogenic, lysosomal storage disorder, Sa...
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| Publicado no: | PLoS One |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6034809/ https://ncbi.nlm.nih.gov/pubmed/29979746 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0200008 |
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