Genetic Variation in an Individual Human Exome

摘要: There is much interest in characterizing the variation a human individual, because this may elucidate what contributes significantly to person's phenotype, thereby enabling personalized genomics. We focus here on variants ‘exome,’ which set of exons genome, exome believed harbor functional variation. provide an analysis ∼12,500 that affect protein coding portion individual's genome. identified ∼10,400 nonsynonymous single nucleotide polymorphisms (nsSNPs) ∼15–20% are rare population. predict ∼1,500 nsSNPs function and these tend be heterozygous, rare, or novel. Of ∼700 indels, approximately half have lengths multiple three, causes insertions/deletions amino acids corresponding protein, rather than introducing frameshifts. Coding indels also occur frequently at termini genes, so even if indel frameshift, alternative start stop site gene can still used make protein. In summary, we reduced nonsilent by ∼8-fold most likely major effects their proteins' functions. This our first glimpse snapshot current state The majority individual common appear functionally neutral. Our results indicate some improve NCBI reference As more genomes sequenced, many non-SNP will discovered. present approach analyze humans proposing bioinformatic methods hone possible