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...
Gardado en:
| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Public Library of Science (PLoS)
2018-01-01
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| Series: | PLoS ONE |
| Acceso en liña: | http://europepmc.org/articles/PMC6034809?pdf=render |
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