Article

Utilizing ExAC to Assess the Hidden Contribution of Variants of Unknown Significance to Sanfilippo Type B Incidence

2018-02-22

Abstract excerpt

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, Sanfilippo Type B (Mucopolysaccharidosis type IIIB). Sanfilippo Type B is caused by mutations in the gene encoding α-N-...

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Literature Corpus work: ae8a4e94-9d2a-5e6e-a0d7-4d36edb87892
DOI: 10.1101/253435

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