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Volumn 628, Issue , 2010, Pages 1-20

Genetic variation analysis for biomedical researchers: A primer

(1)  Barnes, Michael R a  

a NONE

Author keywords

Bioinformatics; CNV; Genome; INDEL; Mutation; Polymorphism; SNP; Variation; VNTR

Indexed keywords

GENETIC PROCEDURES; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; MUTATION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77952577335     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-60327-367-1_1     Document Type: Review
Times cited : (13)

References (29)
  • 1
    • 33748784339 scopus 로고    scopus 로고
    • Navigating the HapMap
    • Barnes, M.R. (2006) Navigating the HapMap. Brief. Bioinform., 7, 211-224.
    • (2006) Brief. Bioinform. , vol.7 , pp. 211-224
    • Barnes, M.R.1
  • 4
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap Consortium
    • The International HapMap Consortium (2005) A haplotype map of the human genome. Nature, 437, 1299-1320.
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 6
    • 17944367325 scopus 로고    scopus 로고
    • A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders
    • Gratacos, M., Nadal, M., Martin-Santos, R., Pujana, M.A., Gago, J., Peral, B., et al. (2001) A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell, 106, 367-379.
    • (2001) Cell , vol.106 , pp. 367-379
    • Gratacos, M.1    Nadal, M.2    Martin-Santos, R.3    Pujana, M.A.4    Gago, J.5    Peral, B.6
  • 7
    • 33751345434 scopus 로고    scopus 로고
    • Genome-wide detection of human copy number variations using high-density DNA oligo-nucleotide arrays
    • Komura, D., Shen, F., Ishikawa, S., Fitch, K.R., Chen, W., Zhang, J., et al. (2006) Genome-wide detection of human copy number variations using high-density DNA oligo-nucleotide arrays. Genome Res., 16, 1575-1584.
    • (2006) Genome Res. , vol.16 , pp. 1575-1584
    • Komura, D.1    Shen, F.2    Ishikawa, S.3    Fitch, K.R.4    Chen, W.5    Zhang, J.6
  • 8
    • 52949141845 scopus 로고    scopus 로고
    • Integrated detection and population-genetic analysis of SNPs and copy number variation
    • McCarroll, S.A., Kuruvilla, F.G., Korn, J.M., Cawley, S., Nemesh, J., Wysoker, A., et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat.Genet., 40, 1166-1174.
    • (2008) Nat.Genet. , vol.40 , pp. 1166-1174
    • McCarroll, S.A.1    Kuruvilla, F.G.2    Korn, J.M.3    Cawley, S.4    Nemesh, J.5    Wysoker, A.6
  • 9
    • 33750953227 scopus 로고    scopus 로고
    • Whole-genome resequencing
    • Bentley, D.R. (2006) Whole-genome resequencing. Curr. Opin. Genet. Dev., 16, 545-552.
    • (2006) Curr. Opin. Genet. Dev. , vol.16 , pp. 545-552
    • Bentley, D.R.1
  • 10
    • 0029655724 scopus 로고    scopus 로고
    • Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease
    • Kluijtmans, L.A., van den Heuvel, L.P., Boers, G.H., Frosst, P., Stevens, E.M., van Oost, B.A., et al. (1996) Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am. J. Hum. Genet., 58, 35-41.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 35-41
    • Kluijtmans, L.A.1    Van Den Heuvel, L.P.2    Boers, G.H.3    Frosst, P.4    Stevens, E.M.5    Van Oost, B.A.6
  • 11
    • 0035878629 scopus 로고    scopus 로고
    • The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: Implications for the generality of U.S. population data
    • Bahar, A.Y., Taylor, P.J., Andrews, L., Proos, A., Burnett, L., Tucker, K., et al. (2001) The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data. Cancer, 92, 440-445.
    • (2001) Cancer , vol.92 , pp. 440-445
    • Bahar, A.Y.1    Taylor, P.J.2    Andrews, L.3    Proos, A.4    Burnett, L.5    Tucker, K.6
  • 12
    • 18044403553 scopus 로고    scopus 로고
    • Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fbrosis in Argentina
    • Roque, M., Godoy, C.P., Castellanos, M., Pusiol, E. and Mayorga, L.S. (2001) Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fbrosis in Argentina. Hum. Mutat., 18, 167.
    • (2001) Hum. Mutat. , vol.18 , pp. 167
    • Roque, M.1    Godoy, C.P.2    Castellanos, M.3    Pusiol, E.4    Mayorga, L.S.5
  • 15
    • 0035474084 scopus 로고    scopus 로고
    • The birth and death of human single-nucleotide polymorphisms: New experimental evidence and implications for human history and medicine
    • Miller, R.D. and Kwok, P.Y. (2001) The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine. Hum. Mol. Genet., 10, 2195-2198.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2195-2198
    • Miller, R.D.1    Kwok, P.Y.2
  • 16
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper, D.N. and Youssoufan, H. (1988) The CpG dinucleotide and human genetic disease. Hum. Genet., 78, 151-155.
    • (1988) Hum. Genet. , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufan, H.2
  • 18
    • 41149167691 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms (SNPs) are highly conserved in rhesus (Macaca mulatta) and cynomolgus (Macaca fascicu-laris) macaques
    • Street, S.L., Kyes, R.C., Grant, R. and Ferguson, B. (2007) Single nucleotide polymorphisms (SNPs) are highly conserved in rhesus (Macaca mulatta) and cynomolgus (Macaca fascicu-laris) macaques. BMC Genomics, 8, 480.
    • (2007) BMC Genomics , vol.8 , pp. 480
    • Street, S.L.1    Kyes, R.C.2    Grant, R.3    Ferguson, B.4
  • 20
    • 0035140241 scopus 로고    scopus 로고
    • Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: Deserts and recent coalescences
    • Miller, R.D., Taillon-Miller, P. and Kwok, P.Y. (2001) Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences. Genomics, 71, 78-88.
    • (2001) Genomics , vol.71 , pp. 78-88
    • Miller, R.D.1    Taillon-Miller, P.2    Kwok, P.Y.3
  • 22
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • Orr, H.T. and Zoghbi, H.Y. (2007) Trinucleotide repeat disorders. Annu. Rev. Neurosci., 30, 575-621.
    • (2007) Annu. Rev. Neurosci. , vol.30 , pp. 575-621
    • Orr, H.T.1    Zoghbi, H.Y.2
  • 23
    • 0027200763 scopus 로고
    • Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR
    • Lucassen, A.M., Julier, C., Beressi, J.P., Boitard, C., Froguel, P., Lathrop, M. and Bell, J.I. (1993) Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat. Genet., 4, 305-310.
    • (1993) Nat. Genet. , vol.4 , pp. 305-310
    • Lucassen, A.M.1    Julier, C.2    Beressi, J.P.3    Boitard, C.4    Froguel, P.5    Lathrop, M.6    Bell, J.I.7
  • 24
    • 0033555906 scopus 로고    scopus 로고
    • Tandem repeats fnder: A program to analyze DNA sequences
    • Benson, G. (1999) Tandem repeats fnder: a program to analyze DNA sequences. Nucleic Acids Res., 27, 573-580.
    • (1999) Nucleic Acids Res. , vol.27 , pp. 573-580
    • Benson, G.1
  • 25
    • 84934435525 scopus 로고    scopus 로고
    • Asking complex questions of the genome without programming
    • Woollard, P. (2009) Asking complex questions of the genome without programming. Methods Mol. Biol.
    • (2009) Methods Mol. Biol
    • Woollard, P.1
  • 28
    • 84934444247 scopus 로고    scopus 로고
    • Bioinformatic tools for identifying disease gene and SNP candidates
    • Mooney, S., Krishnan, V. and Evani, U.S. (2009) Bioinformatic tools for identifying disease gene and SNP candidates. Methods Mol. Biol.
    • (2009) Methods Mol. Biol
    • Mooney, S.1    Krishnan, V.2    Evani, U.S.3
  • 29
    • 16044373004 scopus 로고    scopus 로고
    • Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene
    • Samson, M., Libert, F., Doranz, B.J., Rucker, J., Liesnard, C., Farber, C.M.S. et al. (1996) Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature, 382, 722-725.
    • (1996) Nature , vol.382 , pp. 722-725
    • Samson, M.1    Libert, F.2    Doranz, B.J.3    Rucker, J.4    Liesnard, C.5    Farber, C.M.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.