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Volumn 14, Issue 7, 2013, Pages 460-470

Sequencing studies in human genetics: Design and interpretation

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CHILDHOOD DISEASE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC MODEL; GENETIC VARIABILITY; GENOME; GENOTYPE; HUMAN; HUMAN GENETICS; PHENOTYPE; PLURIPOTENT STEM CELL; POPULATION GENETICS; PREDICTION; PRIORITY JOURNAL; REVIEW; WORKFLOW;

EID: 84879411643     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg3455     Document Type: Review
Times cited : (212)

References (87)
  • 1
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff, L. A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA 106, 9362-9367 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1
  • 3
    • 39649108872 scopus 로고    scopus 로고
    • Genome-wide significance for dense SNP and resequencing data
    • DOI 10.1002/gepi.20292
    • Hoggart, C. J., Clark, T. G., De Iorio, M., Whittaker, J. C. & Balding, D. J. Genome-wide significance for dense SNP and resequencing data. Genet. Epidemiol. 32, 179-185 (2008). (Pubitemid 351288034)
    • (2008) Genetic Epidemiology , vol.32 , Issue.2 , pp. 179-185
    • Hoggart, C.J.1    Clark, T.G.2    De Iorio, M.3    Whittaker, J.C.4    Balding, D.J.5
  • 4
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • Cirulli, E. T. & Goldstein, D. B. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nature Rev. Genet. 11, 415-425 (2010).
    • (2010) Nature Rev. Genet. , vol.11 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 5
    • 80054746492 scopus 로고    scopus 로고
    • Exome sequencing as a tool for Mendelian disease gene discovery
    • Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Rev. Genet. 12, 745-755 (2011).
    • (2011) Nature Rev. Genet. , vol.12 , pp. 745-755
    • Bamshad, M.J.1
  • 6
    • 77956838065 scopus 로고    scopus 로고
    • Advances in understanding cancer genomes through second-generation sequencing
    • Meyerson, M., Gabriel, S. & Getz, G. Advances in understanding cancer genomes through second-generation sequencing. Nature Rev. Genet. 11, 685-696 (2010).
    • (2010) Nature Rev. Genet. , vol.11 , pp. 685-696
    • Meyerson, M.1    Gabriel, S.2    Getz, G.3
  • 7
    • 78650791604 scopus 로고    scopus 로고
    • Analysis of next-generation genomic data in cancer: Accomplishments and challenges
    • Ding, L., Wendl, M. C., Koboldt, D. C. & Mardis, E. R. Analysis of next-generation genomic data in cancer: accomplishments and challenges. Hum. Mol. Genet. 19, R188-R196 (2010).
    • (2010) Hum. Mol. Genet. , vol.19
    • Ding, L.1    Wendl, M.C.2    Koboldt, D.C.3    Mardis, E.R.4
  • 8
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure, J. & Ji, H. Next-generation DNA sequencing. Nature Biotech. 26, 1135-1145 (2008).
    • (2008) Nature Biotech. , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 10
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Genomes Project C.
    • Genomes Project, C. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 11
    • 70749147623 scopus 로고    scopus 로고
    • The theory of discovering rare variants via DNA sequencing
    • Wendl, M. C. & Wilson, R. K. The theory of discovering rare variants via DNA sequencing. BMC Genomics 10, 485 (2009).
    • (2009) BMC Genomics , vol.10 , pp. 485
    • Wendl, M.C.1    Wilson, R.K.2
  • 12
    • 84864083351 scopus 로고    scopus 로고
    • Clinical application of exome sequencing in undiagnosed genetic conditions
    • Need, A. C. et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J. Med. Genet. 49, 353-361 (2012).
    • (2012) J. Med. Genet. , vol.49 , pp. 353-361
    • Need, A.C.1
  • 13
    • 84864928152 scopus 로고    scopus 로고
    • Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy
    • Heinzen, E. L. et al. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am. J. Hum. Genet. 91, 293-302 (2012).
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 293-302
    • Heinzen, E.L.1
  • 14
    • 84864911042 scopus 로고    scopus 로고
    • Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
    • Need, A. C. et al. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am. J. Hum. Genet. 91, 303-312 (2012).
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 303-312
    • Need, A.C.1
  • 15
    • 84866092268 scopus 로고    scopus 로고
    • Using ERDS to infer copy-number variants in high-coverage genomes
    • Zhu, M. et al. Using ERDS to infer copy-number variants in high-coverage genomes. Am. J. Hum. Genet. 91, 408-421 (2012).
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 408-421
    • Zhu, M.1
  • 16
    • 84865684547 scopus 로고    scopus 로고
    • De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
    • Heinzen, E. L. et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nature Genet. 44, 1030-1034 (2012).
    • (2012) Nature Genet. , vol.44 , pp. 1030-1034
    • Heinzen, E.L.1
  • 17
    • 84868138663 scopus 로고    scopus 로고
    • A likelihood-based framework for variant calling and de novo mutation detection in families
    • Li, B. et al. A likelihood-based framework for variant calling and de novo mutation detection in families. PLoS Genet. 8, e1002944 (2012).
    • (2012) PLoS Genet. , vol.8
    • Li, B.1
  • 18
    • 79956314887 scopus 로고    scopus 로고
    • Genotype and SNP calling from next-generation sequencing data
    • Nielsen, R., Paul, J. S., Albrechtsen, A. & Song, Y. S. Genotype and SNP calling from next-generation sequencing data. Nature Rev. Genet. 12, 443-451 (2011).
    • (2011) Nature Rev. Genet. , vol.12 , pp. 443-451
    • Nielsen, R.1    Paul, J.S.2    Albrechtsen, A.3    Song, Y.S.4
  • 19
    • 70449701942 scopus 로고    scopus 로고
    • Sense from sequence reads: Methods for alignment and assembly
    • Flicek, P. & Birney, E. Sense from sequence reads: methods for alignment and assembly. Nature Methods 6, S6-S12 (2009).
    • (2009) Nature Methods , vol.6
    • Flicek, P.1    Birney, E.2
  • 20
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo, M. A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genet. 43, 491-498 (2011).
    • (2011) Nature Genet. , vol.43 , pp. 491-498
    • Depristo, M.A.1
  • 21
    • 79956307251 scopus 로고    scopus 로고
    • Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads
    • Lunter, G. & Goodson, M. Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res. 21, 936-939 (2011).
    • (2011) Genome Res. , vol.21 , pp. 936-939
    • Lunter, G.1    Goodson, M.2
  • 22
    • 79954553212 scopus 로고    scopus 로고
    • Improving SNP discovery by base alignment quality
    • Li, H. Improving SNP discovery by base alignment quality. Bioinformatics 27, 1157-1158 (2011).
    • (2011) Bioinformatics , vol.27 , pp. 1157-1158
    • Li, H.1
  • 23
    • 68849128718 scopus 로고    scopus 로고
    • Diabetes mellitus in long-term survivors of childhood cancer. Increased risk associated with radiation therapy: A report for the childhood cancer survivor study
    • Meacham, L. R. et al. Diabetes mellitus in long-term survivors of childhood cancer. Increased risk associated with radiation therapy: a report for the childhood cancer survivor study. Arch. Intern. Med. 169, 1381-1388 (2009).
    • (2009) Arch. Intern. Med. , vol.169 , pp. 1381-1388
    • Meacham, L.R.1
  • 24
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
    • (2010) Genome Res. , vol.20 , pp. 1297-1303
    • McKenna, A.1
  • 25
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale, B. M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012).
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1
  • 26
    • 84871949580 scopus 로고    scopus 로고
    • Genotype calling and haplotyping in parent-offspring trios
    • Chen, W. et al. Genotype calling and haplotyping in parent-offspring trios. Genome Res. 23, 142-151 (2013).
    • (2013) Genome Res. , vol.23 , pp. 142-151
    • Chen, W.1
  • 27
    • 79959725029 scopus 로고    scopus 로고
    • Variation in genome-wide mutation rates within and between human families
    • Conrad, D. F. et al. Variation in genome-wide mutation rates within and between human families. Nature Genet. 43, 712-714 (2011).
    • (2011) Nature Genet. , vol.43 , pp. 712-714
    • Conrad, D.F.1
  • 28
    • 70349556543 scopus 로고    scopus 로고
    • Personalized copy number and segmental duplication maps using next-generation sequencing
    • Alkan, C. et al. Personalized copy number and segmental duplication maps using next-generation sequencing. Nature Genet. 41, 1061-1067 (2009).
    • (2009) Nature Genet. , vol.41 , pp. 1061-1067
    • Alkan, C.1
  • 29
    • 77955163329 scopus 로고    scopus 로고
    • MrsFAST: A cache-oblivious algorithm for short-read mapping
    • Hach, F. et al. mrsFAST: a cache-oblivious algorithm for short-read mapping. Nature Methods 7, 576-577 (2010).
    • (2010) Nature Methods , vol.7 , pp. 576-577
    • Hach, F.1
  • 30
    • 84860297457 scopus 로고    scopus 로고
    • De novo gene disruptions in children on the autistic spectrum
    • Iossifov, I. et al. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012).
    • (2012) Neuron , vol.74 , pp. 285-299
    • Iossifov, I.1
  • 31
    • 84868686559 scopus 로고    scopus 로고
    • Diagnostic exome sequencing in persons with severe intellectual disability
    • de Ligt, J. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921-1929 (2012).
    • (2012) N. Engl. J. Med. , vol.367 , pp. 1921-1929
    • De Ligt, J.1
  • 32
    • 84868543309 scopus 로고    scopus 로고
    • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
    • Rauch, A. et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380, 1674-1682 (2012).
    • (2012) Lancet , vol.380 , pp. 1674-1682
    • Rauch, A.1
  • 33
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders, S. J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012).
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1
  • 34
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012).
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1
  • 35
    • 79960405019 scopus 로고    scopus 로고
    • The variant call format and VCFtools
    • Danecek, P. et al. The variant call format and VCFtools. Bioinformatics 27, 2156-2158 (2011).
    • (2011) Bioinformatics , vol.27 , pp. 2156-2158
    • Danecek, P.1
  • 36
    • 84867214350 scopus 로고    scopus 로고
    • Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
    • Saunders, C. J. et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med. 4, 154ra135 2012
    • (2012) Sci. Transl. Med. , vol.4
    • Saunders, C.J.1
  • 37
    • 78651393550 scopus 로고    scopus 로고
    • Carrier testing for severe childhood recessive diseases by next-generation sequencing
    • Bell, C. J. et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 3, 65ra4 (2011).
    • (2011) Sci. Transl. Med. , vol.3
    • Bell, C.J.1
  • 39
    • 84864430562 scopus 로고    scopus 로고
    • SIFT web server: Predicting effects of amino acid substitutions on proteins
    • Sim, N. L. et al. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 40, W452-W457 (2012).
    • (2012) Nucleic Acids Res. , vol.40
    • Sim, N.L.1
  • 40
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei, I. A. et al. A method and server for predicting damaging missense mutations. Nature Methods 7, 248-249 (2010).
    • (2010) Nature Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 41
    • 22244437614 scopus 로고    scopus 로고
    • Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
    • DOI 10.1101/gr.3804205
    • Stone, E. A. & Sidow, A. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res. 15, 978-986 (2005). (Pubitemid 40994218)
    • (2005) Genome Research , vol.15 , Issue.7 , pp. 978-986
    • Stone, E.A.1    Sidow, A.2
  • 42
    • 77955590137 scopus 로고    scopus 로고
    • Human allelic variation: Perspective from protein function, structure, and evolution
    • Jordan, D. M., Ramensky, V. E. & Sunyaev, S. R. Human allelic variation: perspective from protein function, structure, and evolution. Curr. Opin. Struct. Biol. 20, 342-350 (2010).
    • (2010) Curr. Opin. Struct. Biol. , vol.20 , pp. 342-350
    • Jordan, D.M.1    Ramensky, V.E.2    Sunyaev, S.R.3
  • 43
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz, J. M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nature Methods 7, 575-576 (2010).
    • (2010) Nature Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 44
    • 79957621519 scopus 로고    scopus 로고
    • Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
    • Hicks, S., Wheeler, D. A., Plon, S. E. & Kimmel, M. Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum. Mutat. 32, 661-668 (2011).
    • (2011) Hum. Mutat. , vol.32 , pp. 661-668
    • Hicks, S.1    Wheeler, D.A.2    Plon, S.E.3    Kimmel, M.4
  • 45
    • 80051968181 scopus 로고    scopus 로고
    • Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
    • Cooper, G. M. & Shendure, J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nature Rev. Genet. 12, 628-640 (2011).
    • (2011) Nature Rev. Genet. , vol.12 , pp. 628-640
    • Cooper, G.M.1    Shendure, J.2
  • 49
    • 33846014328 scopus 로고    scopus 로고
    • A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)
    • DOI 10.1016/j.mrfmmm.2006.09.003, PII S0027510706002740
    • Morgenthaler, S. & Thilly, W. G. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat. Res. 615, 28-56 (2007). (Pubitemid 46054081)
    • (2007) Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis , vol.615 , Issue.1-2 , pp. 28-56
    • Morgenthaler, S.1    Thilly, W.G.2
  • 50
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • Li, B. & Leal, S. M. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am. J. Hum. Genet. 83, 311-321 (2008).
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 51
    • 61449168010 scopus 로고    scopus 로고
    • A groupwise association test for rare mutations using a weighted sum statistic
    • Madsen, B. E. & Browning, S. R. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet. 5, e1000384 (2009).
    • (2009) PLoS Genet. , vol.5
    • Madsen, B.E.1    Browning, S.R.2
  • 52
    • 77953121877 scopus 로고    scopus 로고
    • Pooled association tests for rare variants in exon-resequencing studies
    • Price, A. L. et al. Pooled association tests for rare variants in exon-resequencing studies. Am. J. Hum. Genet. 86, 832-838 (2010).
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 832-838
    • Price, A.L.1
  • 53
    • 79953752624 scopus 로고    scopus 로고
    • Testing for an unusual distribution of rare variants
    • Neale, B. M. et al. Testing for an unusual distribution of rare variants. PLoS Genet. 7, e1001322 (2011).
    • (2011) PLoS Genet. , vol.7
    • Neale, B.M.1
  • 54
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • Wu, M. C. et al. Rare-variant association testing for sequencing data with the sequence kernel association test. Am. J. Hum. Genet. 89, 82-93 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 82-93
    • Wu, M.C.1
  • 55
    • 80052731371 scopus 로고    scopus 로고
    • A general framework for detecting disease associations with rare variants in sequencing studies
    • Lin, D. Y. & Tang, Z. Z. A general framework for detecting disease associations with rare variants in sequencing studies. Am. J. Hum. Genet. 89, 354-367 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 354-367
    • Lin, D.Y.1    Tang, Z.Z.2
  • 56
    • 80054728031 scopus 로고    scopus 로고
    • Comparison of statistical tests for disease association with rare variants
    • Basu, S. & Pan, W. Comparison of statistical tests for disease association with rare variants. Genet. Epidemiol. 35, 606-619 (2011).
    • (2011) Genet. Epidemiol. , vol.35 , pp. 606-619
    • Basu, S.1    Pan, W.2
  • 57
    • 77958102016 scopus 로고    scopus 로고
    • Statistical analysis strategies for association studies involving rare variants
    • Bansal, V., Libiger, O., Torkamani, A. & Schork, N. J. Statistical analysis strategies for association studies involving rare variants. Nature Rev. Genet. 11, 773-785 (2010).
    • (2010) Nature Rev. Genet. , vol.11 , pp. 773-785
    • Bansal, V.1    Libiger, O.2    Torkamani, A.3    Schork, N.J.4
  • 58
    • 80052832184 scopus 로고    scopus 로고
    • Computational and statistical approaches to analyzing variants identified by exome sequencing
    • Stitziel, N. O., Kiezun, A. & Sunyaev, S. Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol. 12, 227 (2011).
    • (2011) Genome Biol. , vol.12 , pp. 227
    • Stitziel, N.O.1    Kiezun, A.2    Sunyaev, S.3
  • 59
    • 84861618864 scopus 로고    scopus 로고
    • Exome sequencing and the genetic basis of complex traits
    • Kiezun, A. et al. Exome sequencing and the genetic basis of complex traits. Nature Genet. 44, 623-630 (2012).
    • (2012) Nature Genet. , vol.44 , pp. 623-630
    • Kiezun, A.1
  • 60
    • 84859171835 scopus 로고    scopus 로고
    • The empirical power of rare variant association methods: Results from Sanger sequencing in 1, 998 individuals
    • Ladouceur, M., Dastani, Z., Aulchenko, Y. S., Greenwood, C. M. & Richards, J. B. The empirical power of rare variant association methods: results from Sanger sequencing in 1, 998 individuals. PLoS Genet. 8, e1002496 (2012).
    • (2012) PLoS Genet. , vol.8
    • Ladouceur, M.1    Dastani, Z.2    Aulchenko, Y.S.3    Greenwood, C.M.4    Richards, J.B.5
  • 61
    • 79953673289 scopus 로고    scopus 로고
    • A genome-wide comparison of the functional properties of rare and common genetic variants in humans
    • Zhu, Q. et al. A genome-wide comparison of the functional properties of rare and common genetic variants in humans. Am. J. Hum. Genet. 88, 458-468 (2011).
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 458-468
    • Zhu, Q.1
  • 62
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen, J. A. et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012).
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1
  • 63
    • 12344327212 scopus 로고    scopus 로고
    • Schizophrenia genes, gene expression, and neuropathology: On the matter of their convergence
    • DOI 10.1038/sj.mp.4001558
    • Harrison, P. J. & Weinberger, D. R. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol. Psychiatry 10, 40-68 (2005). (Pubitemid 40139588)
    • (2005) Molecular Psychiatry , vol.10 , Issue.1 , pp. 40-68
    • Harrison, P.J.1    Weinberger, D.R.2
  • 64
    • 29644442521 scopus 로고    scopus 로고
    • Psychiatric genetics - The new era: Genetic research and some clinical implications
    • DOI 10.1093/bmb/ldh055
    • Prathikanti, S. & Weinberger, D. R. Psychiatric genetics- the new era: genetic research and some clinical implications. Br. Med. Bull. 73-74, 107-122 (2005). (Pubitemid 43020362)
    • (2005) British Medical Bulletin , vol.73-74 , pp. 107-122
    • Prathikanti, S.1    Weinberger, D.R.2
  • 65
    • 33751112508 scopus 로고    scopus 로고
    • Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia
    • DOI 10.1086/508942
    • Mutsuddi, M. et al. Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. Am. J. Hum. Genet. 79, 903-909 (2006). (Pubitemid 44763404)
    • (2006) American Journal of Human Genetics , vol.79 , Issue.5 , pp. 903-909
    • Mutsuddi, M.1    Morris, D.W.2    Waggoner, S.G.3    Daly, M.J.4    Scolnick, E.M.5    Sklar, P.6
  • 66
    • 61449229353 scopus 로고    scopus 로고
    • A genome-wide investigation of SNPs and CNVs in schizophrenia
    • Need, A. C. et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet. 5, e1000373 (2009).
    • (2009) PLoS Genet. , vol.5
    • Need, A.C.1
  • 67
    • 84869051881 scopus 로고    scopus 로고
    • In silico cardiac risk assessment in patients with long QT syndrome: Type 1: Clinical predictability of cardiac models
    • Hoefen, R. et al. In silico cardiac risk assessment in patients with long QT syndrome: type 1: clinical predictability of cardiac models. J. Am. Coll. Cardiol 60, 2182-2191 (2012).
    • (2012) J. Am. Coll. Cardiol , vol.60 , pp. 2182-2191
    • Hoefen, R.1
  • 68
    • 58149252470 scopus 로고    scopus 로고
    • Cardiac channelopathies studied with the dynamic action potential-clamp technique
    • Berecki, G., Zegers, J. G., Wilders, R. & Van Ginneken, A. C. Cardiac channelopathies studied with the dynamic action potential-clamp technique. Methods Mol. Biol. 403, 233-250 (2007).
    • (2007) Methods Mol. Biol. , vol.403 , pp. 233-250
    • Berecki, G.1    Zegers, J.G.2    Wilders, R.3    Van Ginneken, A.C.4
  • 69
    • 0028029193 scopus 로고
    • Dispersion of ventricular repolarization and arrhythmic cardiac death in coronary artery disease
    • DOI 10.1016/0002-9149(94)90742-0
    • Zareba, W., Moss, A. J. & le Cessie, S. Dispersion of ventricular repolarization and arrhythmic cardiac death in coronary artery disease. Am. J. Cardiol. 74, 550-553 (1994). (Pubitemid 24279934)
    • (1994) American Journal of Cardiology , vol.74 , Issue.6 , pp. 550-553
    • Zareba, W.1    Moss, A.J.2    Le Cessie, S.3
  • 71
    • 33749506763 scopus 로고    scopus 로고
    • From in vivo to in silico biology and back
    • DOI 10.1038/nature05127, PII NATURE05127
    • Di Ventura, B., Lemerle, C., Michalodimitrakis, K. & Serrano, L. From in vivo to in silico biology and back. Nature 443, 527-533 (2006). (Pubitemid 44527283)
    • (2006) Nature , vol.443 , Issue.7111 , pp. 527-533
    • Di Ventura, B.1    Lemerle, C.2    Michalodimitrakis, K.3    Serrano, L.4
  • 72
    • 84876254766 scopus 로고    scopus 로고
    • Multiple molecular mechanisms for a single GABAA mutation in epilepsy
    • Reid, C. A. et al. Multiple molecular mechanisms for a single GABAA mutation in epilepsy. Neurology 80, 1003-1008 (2013).
    • (2013) Neurology , vol.80 , pp. 1003-1008
    • Reid, C.A.1
  • 73
    • 84868135886 scopus 로고    scopus 로고
    • Epistatic interactions between Tgfb1 and genetic loci, Tgfbm2 and Tgfbm3, determine susceptibility to an asthmatic stimulus
    • Freimuth, J. et al. Epistatic interactions between Tgfb1 and genetic loci, Tgfbm2 and Tgfbm3, determine susceptibility to an asthmatic stimulus. Proc. Natl Acad. Sci. USA 109, 18042-18047 (2012).
    • (2012) Proc. Natl Acad. Sci. USA , vol.109 , pp. 18042-18047
    • Freimuth, J.1
  • 74
    • 84874189972 scopus 로고    scopus 로고
    • Genotype to phenotype: Lessons from model organisms for human genetics
    • Lehner, B. Genotype to phenotype: lessons from model organisms for human genetics. Nature Rev Genet. 14, 168-178 (2013).
    • (2013) Nature Rev Genet. , vol.14 , pp. 168-178
    • Lehner, B.1
  • 75
    • 84856112882 scopus 로고    scopus 로고
    • Diseases in a dish: Modeling human genetic disorders using induced pluripotent cells
    • Tiscornia, G., Vivas, E. L. & Izpisua Belmonte, J. C. Diseases in a dish: modeling human genetic disorders using induced pluripotent cells. Nature Med. 17, 1570-1576 (2011).
    • (2011) Nature Med. , vol.17 , pp. 1570-1576
    • Tiscornia, G.1    Vivas, E.L.2    Izpisua Belmonte, J.C.3
  • 77
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • Consortium, E. P. et al. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57-74 (2012).
    • (2012) Nature , vol.489 , pp. 57-74
    • Consortium, E.P.1
  • 78
    • 79960142070 scopus 로고    scopus 로고
    • SVA: Software for annotating and visualizing sequenced human genomes
    • Ge, D. et al. SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics 27, 1998-2000 (2011).
    • (2011) Bioinformatics , vol.27 , pp. 1998-2000
    • Ge, D.1
  • 79
    • 67650064594 scopus 로고    scopus 로고
    • The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
    • Pruitt, K. D. et al. The consensus coding sequence (CCDS) project: identifying a common protein-coding gene set for the human and mouse genomes. Genome Res. 19, 1316-1323 (2009).
    • (2009) Genome Res. , vol.19 , pp. 1316-1323
    • Pruitt, K.D.1
  • 80
    • 78651237647 scopus 로고    scopus 로고
    • Identifying a high fraction of the human genome to be under selective constraint using GERP++
    • Davydov, E. V. et al. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol. 6, e1001025 (2010).
    • (2010) PLoS Comput. Biol. , vol.6
    • Davydov, E.V.1
  • 81
    • 0026458378 scopus 로고
    • Amino acid substitution matrices from protein blocks
    • Henikoff, S. & Henikoff, J. G. Amino acid substitution matrices from protein blocks. Proc. Natl Acad. Sci. USA 89, 10915-10919 (1992).
    • (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 10915-10919
    • Henikoff, S.1    Henikoff, J.G.2
  • 82
    • 84859887632 scopus 로고    scopus 로고
    • High-throughput analysis of proteinprotein interactions in picoliter-volume droplets using fluorescence polarization
    • Choi, J. W., Kang, D. K., Park, H., deMello, A. J. & Chang, S. I. High-throughput analysis of proteinprotein interactions in picoliter-volume droplets using fluorescence polarization. Anal. Chem. 84, 3849-3854 (2012).
    • (2012) Anal. Chem. , vol.84 , pp. 3849-3854
    • Choi, J.W.1    Kang, D.K.2    Park, H.3    Demello, A.J.4    Chang, S.I.5
  • 83
    • 81355123249 scopus 로고    scopus 로고
    • Software for systems biology: From tools to integrated platforms
    • Ghosh, S., Matsuoka, Y., Asai, Y., Hsin, K. Y. & Kitano, H. Software for systems biology: from tools to integrated platforms. Nature Rev. Genet. 12, 821-832 (2011).
    • (2011) Nature Rev. Genet. , vol.12 , pp. 821-832
    • Ghosh, S.1    Matsuoka, Y.2    Asai, Y.3    Hsin, K.Y.4    Kitano, H.5
  • 84
    • 33645300737 scopus 로고    scopus 로고
    • From molecule to malady
    • Ashcroft, F. M. From molecule to malady. Nature 440, 440-447 (2006).
    • (2006) Nature , vol.440 , pp. 440-447
    • Ashcroft, F.M.1
  • 85
    • 53549115579 scopus 로고    scopus 로고
    • Determining druggability
    • Owens, J. Determining druggability. Nature Rev. Drug Discov. 6, 187 (2007).
    • (2007) Nature Rev. Drug Discov. , vol.6 , pp. 187
    • Owens, J.1
  • 86
    • 0032706623 scopus 로고    scopus 로고
    • A general approach to single-nucleotide polymorphism discovery
    • Marth, G. T. et al. A general approach to single-nucleotide polymorphism discovery. Nature Genet. 23, 452-456 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 452-456
    • Marth, G.T.1
  • 87
    • 63149156282 scopus 로고    scopus 로고
    • Long tandem repeats as a form of genomic copy number variation: Structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations
    • Bruce, H. A. et al. Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. Psychiatr. Genet. 19, 64-71 (2009).
    • (2009) Psychiatr. Genet. , vol.19 , pp. 64-71
    • Bruce, H.A.1


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