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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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| Publicat a: | PLoS One |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science
2018
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| Matèries: | |
| Accés en línia: | 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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