Skip to main content
. 2014 Nov 12;9(11):e112430. doi: 10.1371/journal.pone.0112430

Figure 1. Pipeline to test supercentenarians for enrichment of rare protein-altering variants or genes harboring them.

Figure 1

All female Caucasian supercentenarian genomes were annotated for protein-altering variants. (A) To test for enrichment of a single variant, we filtered against dbSNP131 and compared each remaining rare protein-altering variant against 1000G EUR. No single variant was significantly enriched. (B) To test for enrichment of a gene with rare protein-altering variants, we collapsed all variants in to their respective genes and filtered against 1000G EUR (MAF<0.015). We tested for enrichment against 34 control genomes from PGP using the RVT1 burden test or a gene-based Fisher’s Exact (for recessive model). No gene was significantly enriched for rare protein-altering variants in supercentenarians. We then Sanger validated TSHZ3 as the best candidate from our burden-test for follow-up.