Meeting Report

You have free access to this content

Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?†

  1. Tania Tabone*

Article first published online: 10 APR 2008

DOI: 10.1002/humu.20781

Issue

Human Mutation

Human Mutation

Volume 29, Issue 6, pages 886–890, June 2008

Additional Information

How to Cite

Tabone, T. (2008), Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?. Hum. Mutat., 29: 886–890. doi: 10.1002/humu.20781

Author Information

  1. School of Agriculture, Food and Wine, The University of Adelaide, Adelaide, Australia

*Molecular Marker Program, The University of Adelaide. PMB1, Glen Osmond 5064, Australia

  1. †

    Communicated by Richard G.H. Cotton

Publication History

  1. Issue published online: 22 MAY 2008
  2. Article first published online: 10 APR 2008
  3. Manuscript Revised: 14 FEB 2008
  4. Manuscript Accepted: 14 FEB 2008
  5. Manuscript Received: 14 JAN 2008

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (108K)

REFERENCES

  • Chen X, Wang X, Hossain S, O'Neill FA, Walsh D, Pless L, Chowdari KV, Nimgaonkar VL, Schwab SG, Wildenauer DB, Sullivan PF, van den Oord E, Kendler KS. 2006. Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia. Hum Mol Genet 15:3329–3342.
  • Chen F, Hihath J, Huang Z, Li X, Tao NJ. 2007. Measurement of single-molecule conductance. Annu Rev Phys Chem 58:535–564.
  • Cotton RGH, 2006 Human Variome Project, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Stenberg J, Fredriksson S, Welch K, Zhang M, Nilsson M, Bicknell D, Bodmer WF, Davis RW, Ji H. 2007. Multigene amplification and massively parallel sequencing for cancer mutation discovery. Proc Natl Acad Sci USA 104:9387–9392.
  • Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. 2007. Completing the map of human genetic variation. Human Genome Structural Variation Working Group. Nature 447:161–165.
  • Frudakis T, Terravainen T, Thomas M. 2007a. Multilocus OCA2 genotypes specify human iris colors. Hum Genet 122:311–326.
  • Frudakis TN, Thomas MJ, Ginjupalli SN, Handelin B, Gabriel R, Gomez HJ. 2007b. CYP2D6*4 polymorphism is associated with statin-induced muscle effects. Pharmacogenet Genomics 17:695–707.
  • Gilbert MT, Tomsho LP, Rendulic S, Packard M, Drautz DI, Sher A, Tikhonov A, Dalén L, Kuznetsova T, Kosintsev P, Campos PF, Higham T, Collins MJ, Wilson AS, Shidlovskiy F, Buigues B, Ericson PG, Germonpré M, Götherström A, Iacumin P, Nikolaev V, Nowak-Kemp M, Willerslev E, Knight JR, Irzyk GP, Perbost CS, Fredrikson KM, Harkins TT, Sheridan S, Miller W, Schuster SC. 2007. Whole-genome shotgun sequencing of mitochondria from ancient hair shafts. Science 317:1927–1930.
  • Isaksson M, Stenberg J, Dahl F, Thuresson A-C, Bondeson M-L, Nilsson M. 2007. MLGA a rapid and cost-efficient assay for gene copy-number analysis. Nucleic Acids Res 35:e115.
  • Kishi S, Cheng C, French D, Pei D, Das S, Cook EH, Hijiya N, Rizzari C, Rosner GL, Frudakis T, Pui CH, Evans WE, Relling MV. 2007. Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood 109:4151–4157.
  • Lo YM, Tsui NB, Chiu RW, Lau TK, Leung TN, Heung MM, Gerovassili A, Jin Y, Nicolaides KH, Cantor CR, Ding C. 2007. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 13:218–223.
  • Peters BA, Kan Z, Sebisanovic D, Pujara K, Wang Z, Hong P, Chow B, Stinson J, Carlton VE, Pham TQ, Stern H, Waring P, Hillan KJ, Eberhard DA, de Sauvage F, Zheng J, Faham M, Seshagiri S. 2007. Highly efficient somatic-mutation identification using Escherichia coli mismatch-repair detection. Nat Methods 4:713–715.
  • Ring HZ, Kwok P-Y, Cotton RGH. 2006. Human variome project: an international collaboration to catalogue human genetic variation. Pharmacogenomics 7:969–972.
  • Salmon Hillbertz NH, Isaksson M, Karlsson EK, Hellmén E, Pielberg GR, Savolainen P, Wade CM, von Euler H, Gustafson U, Hedhammar A, Nilsson M, Lindblad-Toh K, Andersson L, Andersson G. 2007. Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nat Genet 39:1318–1320.
Get PDF (108K)