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Chunk #11 — Results — Variant Discovery by Gene Re-sequencing

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Genetic variation in healthy oldest-old.
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that are not, 21% and 6% respectively. 72% (398/550) of variants that are in dbSNP have a MAF of ≥5%, whereas only 22% (84/385) of novel variants have a MAF of 5% or greater. Despite a MAF of 19% for all insertion/deletion variants, only 30% (26/87) have an entry in dbSNP. BECN1 and DNMT3A show the lowest degree of variation (1.1 variant/1000 bps), whereas SIRT3 and TRDMT1 have the highest; 5.5 and 5.1 variants/1000 bps, respectively. Supplemental online Table S1 lists the 935 variants discovered through candidate gene re-sequencing, their genomic location, flanking sequences, dbSNP rs number, nucleotide difference, codon/amino acid difference, and MAF.