HGM 2011 - Dubai, UAE
JUN WANG - Abstract
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Jun Wang Title: Personal Genomes are Personalized |
It is ten years since human genome project was drafted, yet we are still asking how genomes will help health care for general people. Recent sequencing revolution have brought affordable personal genomes into practice in terms of cost and throughput, but it remains very difficult to interpret a genome to make sense for the owner. Scientists are still struggling in biomedical genomics studies to get the meaning of every nucleotide in the sequence, while missing heritability in complex diseases confused researchers, and prevented disease modeling, prevention and precaution. Our recent studies have proposed two possible explanations to the missing heritability. First, we have discovered an excess of rare, deleterious SNPs in average human population, which are not designed in current genome-wide association study (GWAS) arrays. Second, we identified extensive structural variations as well as individual-specific sequences among human individuals with potential functional impacts. In all, we believe each human genome is actually highly personalized, or private, as a personal genome. The continuous innovations in the technology would finally prove that by complete de novo assembly of multiple private genomes could we find the key to human genomics for medical genomics and health care. |
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Sheikh Hamdan Bin Rashid Al Maktoum |
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Human Genome Organisation |
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Centre for Arab Genomic Studies |
