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Chunk #23 — Discussion

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Genetic variation in healthy oldest-old.
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We have re-sequenced aging-related candidate genes to systematically detect common and rare variants that potentially contribute to healthy aging and disease-resistance. This set of 935 variants (summarized in supplemental online Table S1) will provide a valuable resource for the bio-gerontological as well as the biomedical communities, the more so because rare variants and particularly insertions and deletions are underrepresented in dbSNP and HapMap [43]. Some rare missense variants or variants in the promoter or other gene regulatory regions may have effects on gene expression [29]. In our study, 201 (of 716) amplicons covered conserved nucleotide sequence regions. Variants in these regions (including UTRs) accounted for 48% of all variants (445/935), providing a substantial data set for functional studies of these genes.