•..1Sources of DNA and Sequencing 1Sources of DNA and Sequencing MethodsMethods

• 2 Genome Assembly Strategy and 2 Genome Assembly Strategy and CharacterizationCharacterization

• 3 Gene Prediction and Annotation3 Gene Prediction and Annotation

• 4 Genome Structure4 Genome Structure

• 5 Genome Evolution5 Genome Evolution

• 6 A Genome-Wide Examination of 6 A Genome-Wide Examination of Sequence VariationsSequence Variations

• 7 An Overview of the Predicted Protein- 7 An Overview of the Predicted Protein- Coding Genes in the Human GenomeCoding Genes in the Human Genome

• 8 Conclusions8 Conclusions

2.91 billion bp (Cellera) 3.2 billion (Hcon)

14.8 billions were sequenced in 9 months5.1 times overlap 8 times in genes

26,588 (sure) genes for proteins + 460 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 basesExon ~100 bp , most: 234 in titin mRNAIntron ~100-30,000 bp

2.1 million SNPs, less than 1% of them in proteinsDifferences between human genomes 1 per 1250 bp

The Human Genome (Feb. 2001)

Unknown 36%

hydrolase

isomerase

Kinase 4%

Nucleic acid enzyme 13%