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Analysis of Human Nonsense SNPs and Population Genetic Diversity

Investigation of 805 human nonsense SNPs from dbSNP, assessing STOP codon introduction impact. Genotyping 1,536 SNPs in 1,151 individuals across 56 diverse populations. Focus on CEPH, Yoruba, CHB, and LWK populations. Prioritization for comprehensive study.

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Analysis of Human Nonsense SNPs and Population Genetic Diversity

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  1. SNPs that result in STOP codons

  2. Human nonsense SNPs 805 nonsense SNPs from dbSNP were tested Looked at SNPs that introduced a STOP. Genotyped 1,536 SNPs in 1,151 individuals HAPMAP + HGDP-CEPH 56 geographically diverse populations 22 CEPH (European), 23 Yoruba (Nigeria), 23 CHB (Han Chinese), 23 LWK (Kenya) 169 nonsense SNPs were variable.

  3. Four way Venn: A, V, W and CT A,V A,V,W V,W V A,V,C All V,W,C V,C A,P A,W,C W,C C A A,W W

  4. Four way Venn: A, V, W and P A,V A,V,W V,W V A,V,P All V,W,P V,P A,P A,W,P W,P P A A,W W

  5. Prioritization for careful analysis

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