BIO 346 Human Biology (K. Kalthoff)

References to Topic 09: The Human Genome Project


Easy Readings

Beardsley T. (1996) Vital Data. Scientific American. Mar. 1996: 100-105.
Church G.M (2006) Genomes for ALL. Scient. Amer. January 2006: 47-54
Couzin J. (2004) Consensus emerges on HapMap strategy. Science 304: 671-672
Daiger S.P. (2005) Was the human genome project worth the effort?
Science 308: 362-364
Hudson K.L., Holohan M.K., and Collins F.S. (2008) Keeping pace with the times – The genetic Information Nondiscrimination act of 2008. New Engl. J. Med. 358;25: 2661-2663
Jordan E. and Collins F.S. (1996) A march of genetic maps. Nature 380: 111-112
Korobkin R. and Rajkumar R. (2008) The Genetic Information Nondiscrimination Act – A half-step towards risk-sharing. New Engl. J. Med. 359;4: 335-337
Murphy E. (2013) The government wants your DNA. Scient. Amer. March 2013, 72-77
Rothstein M. (2008) Keeping your genes private. Scient. Amer. Sept 2008: 64-69

Intermediate Readings

Campbell A.M. and Heyer L.J. (2003) Genomics, Proteomics, and Bioinformatics. San Francisco: Benjamin Cummings
Carlson C.S., Eberle M.A., Kruglyak L. and Nickerson D.A. (2004) Mapping complex disease loci in whole-genome association studies. . Nature 429: 446-452
Chung C.H., Bernard P.S. and Perou C.M. (2002) Molecular portraits and the family tree of cancer. Nature Genetics Supplement 32: 533-540
Collins F.S., Morgan M. and Patrinos A. (2003) The human genome project: Lessons from large-scale biology. Science 300: 286-290
Cooper N.C. (1992) The human genome project. Los Alamos Science. Number 20.
Evans W.E. and Relling M.V. (2004) Moving towards individualized medicine with pharmacogenomics.   Nature 429: 464-468
Fields S. (2001) Proteomics in genomeland. Science 291: 1221-1224.
Lander E. (2011) Initial impact of the sequencing of the human genome. Nature 470: 187-197
Miklos G.L.G. and Rubin G.M. (1996) The role of the genome project in determining gene function: Insight from model organisms. Cell 86: 521-529
Peltonen L and McKusick VA. (2001) Genomics and medicine. Dissecting human disease in the postgenomic era. Science 291: 1224-1229.
Sharp P.M. (2002) Origins of human virus diversity. Cell 108: 305-312
Strachan T. and Read A.P. (2nd ed. 1999) Human Molecular Genetics. New York. Wiley/BIOS, ISBN # 0-471-33061-2.
Watson J.D. (1990) The human genome project: past, present, and future. Science 248: 44-48.

Advanced Readings

Blattner F.R. et al. (1997) Science 277: 1453-1461
Böhni R., Riesgo-Escovar J., Oldham S., Brogiolo W., Stocker H., Andruss B.F., Beckingham K. and Hafen E. (1999) Autonomous control of cell and organ size by CHICO, a Drosophila homolog of vertebrate IRS1-4. Cell 97: 865-875
Carlson C.S., Eberle M.A., Kruglyak L. and Nickerson D.A. (2004) Mapping complex disease loci in whole-genome association studies. . Nature 429: 446-452
Cavalli-Sforza L.L., Wilson A.C., Cantor C.A., Cook-Dean A.M., and King M.C. (1991) Call for a world-wide survey of human genetic diversity: a vanishing opportunity for the human genome project. Genomics 11: 90-91
Chen E., d'Urso M. and Schlessinger D. (1994) Functional mapping of the human genome by cDNA localization versus sequencing. BioEssays. 16 (9): 693-698.
Collins F.S., Patrinos A., Jordan E., Chakravarti A., Gesteland R., Walters L., et al. (1998) New Goals for the U.S. Human Genome Project: 1998-2003. Science 282: 682-689
Encode Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Science 489: 57-74
Hinds D.A. et al. (2005) Whole-genome patterns of common DNA variations in three human populations. Science 307: 1072-1079
Karim F.D., Chang H.C., Therrien M., Wassarman D.A., Laverty T., and Rubin G.M. (1996) A screen for genes that function downstream of Ras1 during Drosophila eye development. Genetics 143: 315-329.
Sabeti P.C. et al. (2007) Genome-wide detection and characterization of positive selection in human populations. Nature 449: 913-918
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC,Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR,Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, WaterstonRH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B,Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D. (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928-933.
Schlessinger D. (1990) Yeast artificial chromosomes: tools for mapping and analysis of complex genomes. Trends in Genetics. 6 (8): 248 258.
Tavazoie S.F. et al. (2008) Endogenous human microRNAs that suppress breast cancer metastasis. Nature 451: 147-152
The International Chimpanzee Chromosome 22 Consortium (2004) DNA sequence and comparative analysis of chimpanzee chromosome 22. Nature 429: 382-388. See also commentary by Weissenbach J. (2004) Differences with the relatives. Nature 429: 353-355
The International HapMap Consortium (2003) The International HapMap project. Nature 246: 789-796
The International HapMap Consortium (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449: 851-861
Thakkinstian A, Han P, McEvoy M, Smith W, Hoh J, Magnusson K, Zhang K, Attia J. (2006) Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet. 2006 Aug 11; [Epub ahead of print]
van 't Veer L.J. et al. (2002) Gene expression profiling predicts clinical outcome of breast cancer. Nature 415: 530-536

Web Sites

A web tool created by Jim Kent of UC Santa Cruz makes the Human Genome accessible.


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Last modified: 12 November 2013