.1Sources of DNA and Sequencing Methods.1Sources of DNA and Sequencing Methods 2 Genome Assembly Strategy and Characterization 2 Genome Assembly Strategy and Characterization 3 Gene Prediction and Annotation 3 Gene Prediction and Annotation 4 Genome Structure 4 Genome Structure 5 Genome Evolution 5 Genome Evolution 6 A Genome-Wide Examination of Sequence Variations 6 A Genome-Wide Examination of Sequence Variations 7 An Overview of the Predicted Protein- Coding Genes in the Human Genome 7 An Overview of the Predicted Protein- Coding Genes in the Human Genome 8 Conclusions 8 Conclusions

2.91 billion bp (Cellera) 3.2 billion (Hcon) 14.8 billions were sequenced in 9 months 5.1 times overlap 8 times in genes 26,588 (sure) genes for proteins genes for RNAs + ~12,000 sequences related to mouse etc. 1.1 % exons 24% introns 75% intergenic About 50 % repeat sequences 45% transposables elements Average length of a gene 27,894 bases Exon ~100 bp, most: 234 in titin mRNA Intron ~100-30,000 bp 2.1 million SNPs, less than 1% of them in proteins Differences between human genomes 1 per 1250 bp The Human Genome (Feb. 2001)

Unknown 36% hydrolase isomerase Kinase 4% Nucleic acid enzyme 13%