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    Results: 1 to 20 of 89

    1.

    Genetic determinants of phenotypic diversity in humans.

    Rahim NG, Harismendy O, Topol EJ, Frazer KA.

    Genome Biol. 2008 Apr 24;9(4):215.

    PMID:
    18439327
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    Human inter-individual DNA sequence variation in candidate genes, drug targets, the importance of haplotypes and pharmacogenomics.

    Hoehe MR, Timmermann B, Lehrach H.

    Curr Pharm Biotechnol. 2003 Dec;4(6):351-78. Review.

    PMID:
    14683431
    [PubMed - indexed for MEDLINE]
    3.

    Structural variation analysis with strobe reads.

    Ritz A, Bashir A, Raphael BJ.

    Bioinformatics. 2010 May 15;26(10):1291-8. Epub 2010 Apr 8.

    PMID:
    20378554
    [PubMed - indexed for MEDLINE]
    Free Article
    4.

    Uncovering the roles of rare variants in common disease through whole-genome sequencing.

    Cirulli ET, Goldstein DB.

    Nat Rev Genet. 2010 Jun;11(6):415-25. Review.

    PMID:
    20479773
    [PubMed - indexed for MEDLINE]
    5.

    Structural variation in the human genome.

    Feuk L, Carson AR, Scherer SW.

    Nat Rev Genet. 2006 Feb;7(2):85-97. Review.

    PMID:
    16418744
    [PubMed - indexed for MEDLINE]
    6.

    Large scale DNA sequencing: new challenges emerge--the 2007 Human Genome Variation Society scientific meeting.

    Oetting WS.

    Hum Mutat. 2008 May;29(5):765-8.

    PMID:
    18348287
    [PubMed - indexed for MEDLINE]
    7.

    Finding genes that underlie complex traits.

    Glazier AM, Nadeau JH, Aitman TJ.

    Science. 2002 Dec 20;298(5602):2345-9. Review.

    PMID:
    12493905
    [PubMed - indexed for MEDLINE]
    8.

    Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.

    Rieder MJ, Taylor SL, Tobe VO, Nickerson DA.

    Nucleic Acids Res. 1998 Feb 15;26(4):967-73.

    PMID:
    9461455
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Direct analysis of single-nucleotide polymorphism on double-stranded DNA by pyrosequencing.

    Nordström T, Ronaghi M, Forsberg L, de Faire U, Morgenstern R, Nyrén P.

    Biotechnol Appl Biochem. 2000 Apr;31 ( Pt 2):107-12.

    PMID:
    10744955
    [PubMed - indexed for MEDLINE]
    10.

    Population genetics--making sense out of sequence.

    Chakravarti A.

    Nat Genet. 1999 Jan;21(1 Suppl):56-60. Review.

    PMID:
    9915503
    [PubMed - indexed for MEDLINE]
    11.

    Sequence diversity and haplotype associations with phenotypic responses to crowding: GIGANTEA affects fruit set in Arabidopsis thaliana.

    Brock MT, Tiffin P, Weinig C.

    Mol Ecol. 2007 Jul;16(14):3050-62.

    PMID:
    17614917
    [PubMed - indexed for MEDLINE]
    12.

    Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans.

    Mohrenweiser HW, Xi T, Vázquez-Matías J, Jones IM.

    Cancer Epidemiol Biomarkers Prev. 2002 Oct;11(10 Pt 1):1054-64.

    PMID:
    12376507
    [PubMed - indexed for MEDLINE]
    Free Article
    13.

    Genetic diversification, vicariance, and selection in a polytypic frog.

    Robertson JM, Zamudio KR.

    J Hered. 2009 Nov-Dec;100(6):715-31. Epub 2009 Jul 9.

    PMID:
    19589848
    [PubMed - indexed for MEDLINE]
    Free Article
    14.

    Sequence variation within the RPGR gene: evidence for a founder complex allele.

    Zito I, Morris A, Tyson P, Winship I, Sharp D, Gilbert D, Thiselton DL, Bhattacharya SS, Hardcastle AJ.

    Hum Mutat. 2000 Sep;16(3):273-4.

    PMID:
    10980543
    [PubMed - indexed for MEDLINE]
    15.

    Human mitochondrial DNA variation and evolution: analysis of nucleotide sequences from seven individuals.

    Aquadro CF, Greenberg BD.

    Genetics. 1983 Feb;103(2):287-312.

    PMID:
    6299878
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    SNP genotyping: technologies and biomedical applications.

    Kim S, Misra A.

    Annu Rev Biomed Eng. 2007;9:289-320. Review.

    PMID:
    17391067
    [PubMed - indexed for MEDLINE]
    17.

    The diploid genome sequence of an individual human.

    Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC.

    PLoS Biol. 2007 Sep 4;5(10):e254.

    PMID:
    17803354
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Power of deep, all-exon resequencing for discovery of human trait genes.

    Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR.

    Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):3871-6. Epub 2009 Feb 6.

    PMID:
    19202052
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1.

    Yu N, Zhao Z, Fu YX, Sambuughin N, Ramsay M, Jenkins T, Leskinen E, Patthy L, Jorde LB, Kuromori T, Li WH.

    Mol Biol Evol. 2001 Feb;18(2):214-22.

    PMID:
    11158380
    [PubMed - indexed for MEDLINE]
    Free Article
    20.

    Whole genome sequencing.

    Ng PC, Kirkness EF.

    Methods Mol Biol. 2010;628:215-26. Review.

    PMID:
    20238084
    [PubMed - indexed for MEDLINE]

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