Article
The Medical Genome Reference Bank: a whole-genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design
2018-03-01
Abstract excerpt
Allele frequency data from human reference populations is of increasing value for filtering and assignment of pathogenicity to genetic variants. Aged and healthy populations are more likely to be selectively depleted of pathogenic alleles, and therefore particularly suitable as a reference populations for the major diseases of clinical and public health importance. However, reference studies of the healthy elderly...
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Identifiers and source
- Literature Corpus work
- c0c4317b-9700-5024-82cb-43695e518c0f
- DOI
- 10.1101/274019
