Chapter 19: The Human Genome
This page offers the web documents that are referred to in Chapter 5 of the book, as well as various resources. In Chapter 4 we discussed BLAST. This chapter covers BLAST-related approaches to database searching including position-specific scoring matrices and hidden Markov models that allow far more sensitive searches. We also discuss ways to search and align long segments of genomic DNA.
| Web documents | Page | Description |
| Web Document 19-1 | 832 | List of regions having very high recombination rates |
Chapter 19 Resources |
| Powerpoint of the human genome lecture from November 2009 |
| Course site for Genomics (260.605, 2nd quarter 2009-2010). This companion site includes information such as the class schedule and assignments. |
| Key URLs: NCBI; UCSC; Ensembl |
| Publications reporting the sequence of the human genomes and chromosomes | |||
| Project | Reference | PMID | Accession |
| Human genome (public) | International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001) | ||
| Human genome (public, finished) | International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 431, 931-945 (2004). |
||
| Human genome (Celera) | Venter, J. C., et al. The sequence of the human genome. Science 291, 1304–1351 (2001). |
||
| Individual diploid genome | Levy, S., et al. The diploid genome sequence of an individual human. PLoS Biol. 5, e254 (2007). |
||
| chromosome 1 | Gregory, S.G., et al. The DNA sequence and biological annotation of human chromosome 1. Nature 441, 315-321 (2006). |
NC_000001 |
|
| chromosome 2 | Hillier, L. W. et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature 434, 724-731 (2005). |
NC_000002 | |
| chromosome 3 | Muzny, D.M. et al. The DNA sequence, annotation and analysis of human chromosome 3. Nature 440, 1194-1198 (2006). |
CM000464 | |
| chromosome 4 | Hillier, L. W. et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature 434, 724-731 (2005). |
CM000465 | |
| chromosome 5 | Schmutz, J. et al. The DNA sequence and comparative analysis of human chromosome 5. Nature 431, 268-274 (2004). |
CM000466 | |
| chromosome 6 | Mungall, A.J. et al. The DNA sequence and analysis of human chromosome 6. Nature 425, 805-811 (2003). |
CM000467 | |
| chromosome 7 | Hillier, L. W. et al. The DNA sequence of human chromosome 7. Nature 424, 157-164 (2003). |
CM000468 | |
| chromosome 7 |
|
BL000001 | |
| chromosome 8 | Nusbaum, C. et al. DNA sequence and analysis of human chromosome 8. Nature 439, 331-335 (2006). |
CM000469 | |
| chromosome 9 | Humphray, S. J. et al. DNA sequence and analysis of human chromosome 9. Nature 429, 369-375 (2004). |
CM000470 |
|
| chromosome 10 | Deloukas, P. et al. The DNA sequence and comparative analysis of human chromosome 10. Nature 429, 375-382 (2004). |
CM000471 |
|
| chromosome 11 | Taylor, T. D. et al. Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature 440, 497-500 (2006). |
CM000472 |
|
| chromosome 12 | Scherer, S. E. et al. The finished DNA sequence of human chromosome 12. Nature 440, 346-351 (2006). |
||
| chromosome 13 | Dunham, A. et al. The DNA sequence and analysis of human chromosome 13. Nature 428, 522-528(2004). |
||
| chromosome 14 | Heilig, R. et al. The DNA sequence and analysis of human chromosome 14. Nature 421, 601-607 (2003). |
||
| chromosome 15 | Zody, M. C. et al. Analysis of the DNA sequence and duplication history of human chromosome 15. Nature 440, 671-675 (2006). |
||
| chromosome 16 | Martin, J. et al. The sequence and analysis of duplication-rich human chromosome 16. Nature 432, 988-994 (2004). |
||
| chromosome 17 | Muzny, D. M. et al. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 440, 1045-1049 (2006). |
||
| chromosome 18 |
|
||
| chromosome 19 | Grimwood, J. et al. The DNA sequence and biology of human chromosome 19. Nature 428, 529-625 (2003). |
||
| chromosome 20 | Deloukas, P., et al. The DNA sequence and comparative analysis of human chromosome 20. Nature 414, 865–871 (2001). |
||
| chromosome 21 | Hattori, M. et al. The DNA sequence of human chromosome 21. Nature 405, 311-319 (2000). |
||
| chromosome 22 | Dunham, I., et al. The DNA sequence of human chromosome 22. Nature 402, 489–495 (1999). |
||
| chromosome X | Ross, M.T. et al. The DNA sequence of the human X chromosome. Nature 434, 325-337 (2005). |
||
| chromosome Y | |||
| To find accession numbers of chromosomes from 100 to 200 Mb, use the Entrez Nucleotide command txid9606[Organism:exp] 100000000:200000000[slen]. To see a list of chromosomal accession numbers, visit this NCBI site. | |||
This page updated January 29, 2010