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Volumn 113, Issue 22, 2016, Pages E3091-E3100

Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

Author keywords

ALS; Amyotrophic lateral sclerosis; Degenerative myelopathy; SOD1; SP110

Indexed keywords

NUCLEAR PROTEIN; SP110 NUCLEAR BODY PROTEIN; UNCLASSIFIED DRUG; MESSENGER RNA; SUPEROXIDE DISMUTASE;

EID: 84973096924     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1600084113     Document Type: Article
Times cited : (32)

References (68)
  • 1
    • 79952486262 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis
    • Kiernan MC, et al. (2011) Amyotrophic lateral sclerosis. Lancet 377(9769):942-955.
    • (2011) Lancet , vol.377 , Issue.9769 , pp. 942-955
    • Kiernan, M.C.1
  • 2
    • 28644447707 scopus 로고    scopus 로고
    • Genome sequence, comparative analysis and haplotype structure of the domestic dog
    • Lindblad-Toh K, et al. (2005) Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 438(7069):803-819.
    • (2005) Nature , vol.438 , Issue.7069 , pp. 803-819
    • Lindblad-Toh, K.1
  • 3
    • 0033630005 scopus 로고    scopus 로고
    • Companion animal medicine in the age of medical genetics
    • Patterson DF (2000) Companion animal medicine in the age of medical genetics. J Vet Intern Med 14(1):1-9.
    • (2000) J Vet Intern Med , vol.14 , Issue.1 , pp. 1-9
    • Patterson, D.F.1
  • 4
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Rosen DR, et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362(6415):59-62.
    • (1993) Nature , vol.362 , Issue.6415 , pp. 59-62
    • Rosen, D.R.1
  • 5
    • 85099679887 scopus 로고    scopus 로고
    • Development of a smartphone app for a genetics website: The amyotrophic lateral sclerosis online genetics database (alsod
    • Abel O, et al. (2013) Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD). JMIR Mhealth Uhealth 1(2):e18.
    • (2013) JMIR Mhealth Uhealth , vol.1 , Issue.2 , pp. e18
    • Abel, O.1
  • 6
    • 84876319986 scopus 로고    scopus 로고
    • Controversies and priorities in amyotrophic lateral sclerosis
    • Turner MR, et al. (2013) Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol 12(3):310-322.
    • (2013) Lancet Neurol , vol.12 , Issue.3 , pp. 310-322
    • Turner, M.R.1
  • 7
    • 80755133370 scopus 로고    scopus 로고
    • Clinical genetics of amyotrophic lateral sclerosis: What do we really know?
    • Andersen PM, Al-Chalabi A (2011) Clinical genetics of amyotrophic lateral sclerosis: What do we really know? Nat Rev Neurol 7(11):603-615.
    • (2011) Nat Rev Neurol , vol.7 , Issue.11 , pp. 603-615
    • Andersen, P.M.1    Al-Chalabi, A.2
  • 8
    • 84893649256 scopus 로고    scopus 로고
    • State of play in amyotrophic lateral sclerosis genetics
    • Renton AE, Chiò A, Traynor BJ (2014) State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 17(1):17-23.
    • (2014) Nat Neurosci , vol.17 , Issue.1 , pp. 17-23
    • Renton, A.E.1    Chiò, A.2    Traynor, B.J.3
  • 9
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-HernandezM, et al. (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245-256.
    • (2011) Neuron , vol.72 , Issue.2 , pp. 245-256
  • 10
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, et al.; ITALSGEN Consortium (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257-268.
    • (2011) Neuron , vol.72 , Issue.2 , pp. 257-268
    • Renton, A.E.1
  • 11
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
    • Majounie E, et al.; Chromosome 9-ALS/FTD Consortium; French Research Network on FTLD/FTLD/ALS; ITALSGEN Consortium (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurol 11(4):323-330.
    • (2012) Lancet Neurol , vol.11 , Issue.4 , pp. 323-330
    • Majounie, E.1
  • 12
    • 84869102685 scopus 로고    scopus 로고
    • Genetic overlap between apparently sporadic motor neuron diseases
    • van Blitterswijk M, et al. (2012) Genetic overlap between apparently sporadic motor neuron diseases. PLoS One 7(11):e48983.
    • (2012) PLoS One , vol.7 , Issue.11 , pp. e48983
    • Van Blitterswijk, M.1
  • 13
    • 84945749129 scopus 로고    scopus 로고
    • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
    • Cirulli ET, et al.; FALS Sequencing Consortium (2015) Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347(6229):1436-1441.
    • (2015) Science , vol.347 , Issue.6229 , pp. 1436-1441
    • Cirulli, E.T.1
  • 14
    • 0015829843 scopus 로고
    • Degenerative myelopathy in the aging German Shepherd dog: Clinical and pathologic findings
    • Averill DR, Jr (1973) Degenerative myelopathy in the aging German Shepherd dog: Clinical and pathologic findings. J Am Vet Med Assoc 162(12):1045-1051.
    • (1973) J Am Vet Med Assoc , vol.162 , Issue.12 , pp. 1045-1051
    • Averill, D.R.1
  • 15
    • 37349016576 scopus 로고    scopus 로고
    • Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs
    • Coates JR, et al. (2007) Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. J Vet Intern Med 21(6):1323-1331.
    • (2007) J Vet Intern Med , vol.21 , Issue.6 , pp. 1323-1331
    • Coates, J.R.1
  • 17
    • 62449225007 scopus 로고    scopus 로고
    • Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis
    • Awano T, et al. (2009) Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 106(8):2794-2799.
    • (2009) Proc Natl Acad Sci USA , vol.106 , Issue.8 , pp. 2794-2799
    • Awano, T.1
  • 18
    • 62449121291 scopus 로고    scopus 로고
    • Degenerative myelopathy in 18 Pembroke Welsh Corgi dogs
    • March PA, et al. (2009) Degenerative myelopathy in 18 Pembroke Welsh Corgi dogs. Vet Pathol 46(2):241-250.
    • (2009) Vet Pathol , vol.46 , Issue.2 , pp. 241-250
    • March, P.A.1
  • 19
    • 84899442878 scopus 로고    scopus 로고
    • Neuronal loss and decreased GLT-1 expression observed in the spinal cord of Pembroke Welsh Corgi dogs with canine degenerative myelopathy
    • Ogawa M, et al. (2014) Neuronal loss and decreased GLT-1 expression observed in the spinal cord of Pembroke Welsh Corgi dogs with canine degenerative myelopathy. Vet Pathol 51(3):591-602.
    • (2014) Vet Pathol , vol.51 , Issue.3 , pp. 591-602
    • Ogawa, M.1
  • 20
    • 84861648435 scopus 로고    scopus 로고
    • Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh corgis and boxers
    • Shelton GD, et al. (2012) Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh corgis and boxers. J Neurol Sci 318(1-2):55-64.
    • (2012) J Neurol Sci , vol.318 , Issue.1-2 , pp. 55-64
    • Shelton, G.D.1
  • 21
    • 84886641380 scopus 로고    scopus 로고
    • Characterization of intercostal muscle pathology in canine degenerative myelopathy: A disease model for amyotrophic lateral sclerosis
    • Morgan BR, Coates JR, Johnson GC, Bujnak AC, Katz ML (2013) Characterization of intercostal muscle pathology in canine degenerative myelopathy: A disease model for amyotrophic lateral sclerosis. J Neurosci Res 91(12):1639-1650.
    • (2013) J Neurosci Res , vol.91 , Issue.12 , pp. 1639-1650
    • Morgan, B.R.1    Coates, J.R.2    Johnson, G.C.3    Bujnak, A.C.4    Katz, M.L.5
  • 22
    • 84895066101 scopus 로고    scopus 로고
    • Characterization of thoracic motor and sensory neurons and spinal nerve roots in canine degenerative myelopathy, a potential disease model of amyotrophic lateral sclerosis
    • Morgan BR, Coates JR, Johnson GC, Shelton GD, Katz ML (2014) Characterization of thoracic motor and sensory neurons and spinal nerve roots in canine degenerative myelopathy, a potential disease model of amyotrophic lateral sclerosis. J Neurosci Res 92(4):531-541.
    • (2014) J Neurosci Res , vol.92 , Issue.4 , pp. 531-541
    • Morgan, B.R.1    Coates, J.R.2    Johnson, G.C.3    Shelton, G.D.4    Katz, M.L.5
  • 23
    • 84897644242 scopus 로고    scopus 로고
    • Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy
    • Zeng R, et al. (2014) Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. J Vet Intern Med 28(2):515-521.
    • (2014) J Vet Intern Med , vol.28 , Issue.2 , pp. 515-521
    • Zeng, R.1
  • 24
    • 80053050835 scopus 로고    scopus 로고
    • Degenerative myelopathy in a Bernese Mountain Dog with a novel SOD1 missense mutation
    • Wininger FA, et al. (2011) Degenerative myelopathy in a Bernese Mountain Dog with a novel SOD1 missense mutation. J Vet Intern Med 25(5):1166-1170.
    • (2011) J Vet Intern Med , vol.25 , Issue.5 , pp. 1166-1170
    • Wininger, F.A.1
  • 25
    • 84879360499 scopus 로고    scopus 로고
    • Canine degenerative myelopathy: Biochemical characterization of superoxide dismutase 1 in the first naturally occurring non-human amyotrophic lateral sclerosis model
    • Crisp MJ, Beckett J, Coates JR, Miller TM (2013) Canine degenerative myelopathy: Biochemical characterization of superoxide dismutase 1 in the first naturally occurring non-human amyotrophic lateral sclerosis model. Exp Neurol 248:1-9.
    • (2013) Exp Neurol , vol.248 , pp. 1-9
    • Crisp, M.J.1    Beckett, J.2    Coates, J.R.3    Miller, T.M.4
  • 26
    • 84875301605 scopus 로고    scopus 로고
    • The genomic signature of dog domestication reveals adaptation to a starch-rich diet
    • Axelsson E, et al. (2013) The genomic signature of dog domestication reveals adaptation to a starch-rich diet. Nature 495(7441):360-364.
    • (2013) Nature , vol.495 , Issue.7441 , pp. 360-364
    • Axelsson, E.1
  • 27
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4(7):1073-1081.
    • (2009) Nat Protoc , vol.4 , Issue.7 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 28
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248-249.
    • (2010) Nat Methods , vol.7 , Issue.4 , pp. 248-249
    • Adzhubei, I.A.1
  • 29
    • 34547100092 scopus 로고    scopus 로고
    • SNAP: Predict effect of non-synonymous polymorphisms on function
    • Bromberg Y, Rost B (2007) SNAP: Predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 35(11):3823-3835.
    • (2007) Nucleic Acids Res , vol.35 , Issue.11 , pp. 3823-3835
    • Bromberg, Y.1    Rost, B.2
  • 30
    • 84896698938 scopus 로고    scopus 로고
    • PredictSNP: Robust and accurate consensus classifier for prediction of disease-related mutations
    • Bendl J, et al. (2014) PredictSNP: Robust and accurate consensus classifier for prediction of disease-related mutations. PLOS Comput Biol 10(1):e1003440.
    • (2014) PLOS Comput Biol , vol.10 , Issue.1 , pp. e1003440
    • Bendl, J.1
  • 31
    • 76249090489 scopus 로고    scopus 로고
    • BioGPS: An extensible and customizable portal for querying and organizing gene annotation resources
    • Wu C, et al. (2009) BioGPS: An extensible and customizable portal for querying and organizing gene annotation resources. Genome Biol 10(11):R130.
    • (2009) Genome Biol , vol.10 , Issue.11 , pp. R130
    • Wu, C.1
  • 32
    • 84898718409 scopus 로고    scopus 로고
    • An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts
    • Hoeppner MP, et al. (2014) An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts. PLoS One 9(3):e91172.
    • (2014) PLoS One , vol.9 , Issue.3 , pp. e91172
    • Hoeppner, M.P.1
  • 33
    • 66249120367 scopus 로고    scopus 로고
    • Human Splicing Finder: An online bioinformatics tool to predict splicing signals
    • Desmet F-O, et al. (2009) Human Splicing Finder: An online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37(9):e67.
    • (2009) Nucleic Acids Res , vol.37 , Issue.9 , pp. e67
    • Desmet, F.-O.1
  • 35
    • 0042242582 scopus 로고    scopus 로고
    • ESEfinder: A web resource to identify exonic splicing enhancers
    • Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 31(13):3568-3571.
    • (2003) Nucleic Acids Res , vol.31 , Issue.13 , pp. 3568-3571
    • Cartegni, L.1    Wang, J.2    Zhu, Z.3    Zhang, M.Q.4    Krainer, A.R.5
  • 36
    • 84902511942 scopus 로고    scopus 로고
    • GRASP: Analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database
    • Leslie R, O'Donnell CJ, Johnson AD (2014) GRASP: Analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database. Bioinformatics 30(12):i185-i194.
    • (2014) Bioinformatics , vol.30 , Issue.12 , pp. i185-i194
    • Leslie, R.1    O'Donnell, C.J.2    Johnson, A.D.3
  • 37
    • 64549117768 scopus 로고    scopus 로고
    • A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
    • Chiò A, et al. (2009) A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 18(8):1524-1532.
    • (2009) Hum Mol Genet , vol.18 , Issue.8 , pp. 1524-1532
    • Chiò, A.1
  • 38
    • 84868133881 scopus 로고    scopus 로고
    • Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1
    • Ahmeti KB, et al. (2013) Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 34(1):357.e7-357.e19.
    • (2013) Neurobiol Aging , vol.34 , Issue.1 , pp. 357e7-357e19
    • Ahmeti, K.B.1
  • 39
    • 84859241496 scopus 로고    scopus 로고
    • Networks of neuronal genes affected by common and rare variants in autism spectrum disorders
    • Ben-David E, Shifman S (2012) Networks of neuronal genes affected by common and rare variants in autism spectrum disorders. PLoS Genet 8(3):e1002556.
    • (2012) PLoS Genet , vol.8 , Issue.3 , pp. e1002556
    • Ben-David, E.1    Shifman, S.2
  • 40
    • 0141642203 scopus 로고    scopus 로고
    • Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice
    • Clement AM, et al. (2003) Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice. Science 302(5642):113-117.
    • (2003) Science , vol.302 , Issue.5642 , pp. 113-117
    • Clement, A.M.1
  • 41
    • 84920269464 scopus 로고    scopus 로고
    • Proteomics. Tissue-based map of the human proteome
    • Uhlén M, et al. (2015) Proteomics. Tissue-based map of the human proteome. Science 347(6220):1260419.
    • (2015) Science , vol.347 , Issue.6220 , pp. 1260419
    • Uhlén, M.1
  • 42
    • 0033860185 scopus 로고    scopus 로고
    • Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator
    • Bloch DB, et al. (2000) Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. Mol Cell Biol 20(16):6138-6146.
    • (2000) Mol Cell Biol , vol.20 , Issue.16 , pp. 6138-6146
    • Bloch, D.B.1
  • 44
    • 33745258176 scopus 로고    scopus 로고
    • Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
    • Roscioli T, et al. (2006) Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet 38(6):620-622.
    • (2006) Nat Genet , vol.38 , Issue.6 , pp. 620-622
    • Roscioli, T.1
  • 45
    • 84866010021 scopus 로고    scopus 로고
    • Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110
    • Wang T, Ong P, Roscioli T, Cliffe ST, Church JA (2012) Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110. Clin Immunol 145(2):102-107.
    • (2012) Clin Immunol , vol.145 , Issue.2 , pp. 102-107
    • Wang, T.1    Ong, P.2    Roscioli, T.3    Cliffe, S.T.4    Church, J.A.5
  • 46
    • 84861717510 scopus 로고    scopus 로고
    • Decreased IL-10 production by EBV-transformed B cells from patients with VODI: Implications for the pathogenesis of Crohn disease
    • Bloch DB, et al. (2012) Decreased IL-10 production by EBV-transformed B cells from patients with VODI: Implications for the pathogenesis of Crohn disease. J Allergy Clin Immunol 129(6):1678-1680.
    • (2012) J Allergy Clin Immunol , vol.129 , Issue.6 , pp. 1678-1680
    • Bloch, D.B.1
  • 47
    • 84865684727 scopus 로고    scopus 로고
    • Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
    • Cliffe ST, et al. (2012) Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol 130(3):735.e6-742.e6.
    • (2012) J Allergy Clin Immunol , vol.130 , Issue.3 , pp. 735e6-742e6
    • Cliffe, S.T.1
  • 48
    • 84872684650 scopus 로고    scopus 로고
    • Identification of regulators of the innate immune response to cytosolic DNA and retroviral infection by an integrative approach
    • Lee MN, et al. (2013) Identification of regulators of the innate immune response to cytosolic DNA and retroviral infection by an integrative approach. Nat Immunol 14(2): 179-185.
    • (2013) Nat Immunol , vol.14 , Issue.2 , pp. 179-185
    • Lee, M.N.1
  • 49
    • 70349882120 scopus 로고    scopus 로고
    • Unbiased reconstruction of a mammalian transcriptional network mediating pathogen responses
    • Amit I, et al. (2009) Unbiased reconstruction of a mammalian transcriptional network mediating pathogen responses. Science 326(5950):257-263.
    • (2009) Science , vol.326 , Issue.5950 , pp. 257-263
    • Amit, I.1
  • 50
    • 77649269693 scopus 로고    scopus 로고
    • Optineurin negatively regulates the induction of IFNbeta in response to RNA virus infection
    • Mankouri J, et al. (2010) Optineurin negatively regulates the induction of IFNbeta in response to RNA virus infection. PLoS Pathog 6(2):e1000778.
    • (2010) PLoS Pathog , vol.6 , Issue.2 , pp. e1000778
    • Mankouri, J.1
  • 51
    • 73149116008 scopus 로고    scopus 로고
    • T cell-microglial dialogue in Parkinson's disease and amyotrophic lateral sclerosis: Are we listening?
    • Appel SH, Beers DR, Henkel JS (2010) T cell-microglial dialogue in Parkinson's disease and amyotrophic lateral sclerosis: Are we listening? Trends Immunol 31(1):7-17.
    • (2010) Trends Immunol , vol.31 , Issue.1 , pp. 7-17
    • Appel, S.H.1    Beers, D.R.2    Henkel, J.S.3
  • 52
    • 33747839468 scopus 로고    scopus 로고
    • ScanProsite: Detection of PROSITE signature matches and ProRule-associated functional and structural residues in proteins
    • de Castro E, et al. (2006) ScanProsite: Detection of PROSITE signature matches and ProRule-associated functional and structural residues in proteins. Nucleic Acids Res 34(Web Server Issue):W362-W365.
    • (2006) Nucleic Acids Res , vol.34 , Issue.WEB SERVER ISSUE , pp. W362-W365
    • De Castro, E.1
  • 53
    • 80052592002 scopus 로고    scopus 로고
    • A directed protein interaction network for investigating intracellular signal transduction
    • Vinayagam A, et al. (2011) A directed protein interaction network for investigating intracellular signal transduction. Sci Signal 4(189):rs8.
    • (2011) Sci Signal , vol.4 , Issue.189 , pp. rs8
    • Vinayagam, A.1
  • 54
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, et al. (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81(3):559-575.
    • (2007) Am J Hum Genet , vol.81 , Issue.3 , pp. 559-575
    • Purcell, S.1
  • 55
  • 56
    • 77950301214 scopus 로고    scopus 로고
    • Variance component model to account for sample structure in genome-wide association studies
    • Kang HM, et al. (2010) Variance component model to account for sample structure in genome-wide association studies. Nat Genet 42(4):348-354.
    • (2010) Nat Genet , vol.42 , Issue.4 , pp. 348-354
    • Kang, H.M.1
  • 57
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263-265.
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 58
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754-1760.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 59
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo MA, et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43(5):491-498.
    • (2011) Nat Genet , vol.43 , Issue.5 , pp. 491-498
    • DePristo, M.A.1
  • 60
    • 84875634162 scopus 로고    scopus 로고
    • Integrative Genomics Viewer (IGV): High-performance genomics data visualization and exploration
    • Thorvaldsdóttir H, Robinson JT, Mesirov JP (2013) Integrative Genomics Viewer (IGV): High-performance genomics data visualization and exploration. Brief Bioinform 14(2):178-192.
    • (2013) Brief Bioinform , vol.14 , Issue.2 , pp. 178-192
    • Thorvaldsdóttir, H.1    Robinson, J.T.2    Mesirov, J.P.3
  • 61
    • 62649155943 scopus 로고    scopus 로고
    • A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
    • Browning BL, Browning SR (2009) A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet 84(2):210-223.
    • (2009) Am J Hum Genet , vol.84 , Issue.2 , pp. 210-223
    • Browning, B.L.1    Browning, S.R.2
  • 62
    • 0242691208 scopus 로고    scopus 로고
    • A comparison of Bayesian methods for haplotype reconstruction from population genotype data
    • Stephens M, Donnelly P (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73(5):1162-1169.
    • (2003) Am J Hum Genet , vol.73 , Issue.5 , pp. 1162-1169
    • Stephens, M.1    Donnelly, P.2
  • 63
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68(4):978-989.
    • (2001) Am J Hum Genet , vol.68 , Issue.4 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 64
    • 84878497738 scopus 로고    scopus 로고
    • SEQscoring: A tool to facilitate the interpretation of data generated with next generation sequencing technologies
    • Truvé K, et al. (2011) SEQscoring: A tool to facilitate the interpretation of data generated with next generation sequencing technologies. EMBnet Journal 17(1): 38-45.
    • (2011) EMBnet Journal , vol.17 , Issue.1 , pp. 38-45
    • Truvé, K.1
  • 65
    • 80054973803 scopus 로고    scopus 로고
    • A high-resolution map of human evolutionary constraint using 29 mammals
    • Lindblad-Toh K, et al.; Broad Institute Sequencing Platform and Whole Genome Assembly Team; Baylor College of Medicine Human Genome Sequencing Center Sequencing Team; Genome Institute at Washington University (2011) A high-resolution map of human evolutionary constraint using 29 mammals. Nature 478(7370):476-482.
    • (2011) Nature , vol.478 , Issue.7370 , pp. 476-482
    • Lindblad-Toh, K.1
  • 66
    • 84862506964 scopus 로고    scopus 로고
    • A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; Iso-2; iso-3
    • Cingolani P, et al. (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 6(2):80-92.
    • (2012) Fly (Austin , vol.6 , Issue.2 , pp. 80-92
    • Cingolani, P.1
  • 67
    • 0036079158 scopus 로고    scopus 로고
    • The human genome browser at UCSC
    • Kent WJ, et al. (2002) The human genome browser at UCSC. Genome Res 12(6): 996-1006.
    • (2002) Genome Res , vol.12 , Issue.6 , pp. 996-1006
    • Kent, W.J.1
  • 68
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489(7414):57-74.
    • (2012) Nature , vol.489 , Issue.7414 , pp. 57-74


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.