메뉴 건너뛰기




Volumn 4, Issue , 2013, Pages

The role and challenges of exome sequencing in studies of human diseases

Author keywords

Complex traits; Exome arrays; Exome sequencing; Mendelian diseases; Whole genome sequencing

Indexed keywords

ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; EXON; GENE FREQUENCY; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOME ANALYSIS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HETEROZYGOSITY; HUMAN; MICROARRAY ANALYSIS; NEXT GENERATION SEQUENCING; PANIC; PHYSICAL DISEASE; POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING;

EID: 84891855440     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2013.00160     Document Type: Article
Times cited : (75)

References (68)
  • 1
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from populationscale sequencing
    • Abecasis, G. R., Altshuler, D., Auton, A., Brooks, L. D., Durbin, R. M., Gibbs, R. A., et al. (2010). A map of human genome variation from populationscale sequencing.Nature467, 1061-1073. doi: 10.1038/nature09534
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1    Altshuler, D.2    Auton, A.3    Brooks, L.D.4    Durbin, R.M.5    Gibbs, R.A.6
  • 2
    • 0037323729 scopus 로고    scopus 로고
    • The effect of single nucleotide polymorphism identification strategies on estimates of linkage disequilibrium
    • Akey, J. M., Zhang, K., Xiong, M., and Jin, L. (2003). The effect of single nucleotide polymorphism identification strategies on estimates of linkage disequilibrium. Mol. Biol. Evol. 20, 232-242. doi: 10.1093/molbev/ msg032
    • (2003) Mol. Biol. Evol , vol.20 , pp. 232-242
    • Akey, J.M.1    Zhang, K.2    Xiong, M.3    Jin, L.4
  • 3
    • 67349209853 scopus 로고    scopus 로고
    • Next-generation DNA sequencing techniques
    • Ansorge, W. J. (2009). Next-generation DNA sequencing techniques. N. Biotechnol. 25, 195-203. doi: 10.1016/j.nbt.2008.12.009
    • (2009) N. Biotechnol , vol.25 , pp. 195-203
    • Ansorge, W.J.1
  • 4
    • 79960572198 scopus 로고    scopus 로고
    • Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
    • Bainbridge, M. N., Wang, M., Wu, Y., Newsham, I., Muzny, D. M., Jefferies, J. L., et al. (2011). Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 12, R68. doi: 10.1186/gb-2011-12-7-r68
    • (2011) Genome Biol , vol.12 , pp. R68
    • Bainbridge, M.N.1    Wang, M.2    Wu, Y.3    Newsham, I.4    Muzny, D.M.5    Jefferies, J.L.6
  • 6
    • 79959640102 scopus 로고    scopus 로고
    • Evaluation of next-generation sequencing software in mapping and assembly
    • Bao, S., Jiang, R., Kwan, W., Wang, B., Ma, X., and Song, Y. Q. (2011). Evaluation of next-generation sequencing software in mapping and assembly. J. Hum. Genet. 56, 406-414. doi: 10.1038/jhg.2011.43
    • (2011) J. Hum. Genet , vol.56 , pp. 406-414
    • Bao, S.1    Jiang, R.2    Kwan, W.3    Wang, B.4    Ma, X.5    Song, Y.Q.6
  • 7
    • 73349138875 scopus 로고    scopus 로고
    • Exome sequencing makes medical genomics a reality
    • Biesecker, L. G. (2010). Exome sequencing makes medical genomics a reality. Nat. Genet. 42, 13-14. doi: 10.1038/ng0110-13
    • (2010) Nat. Genet , vol.42 , pp. 13-14
    • Biesecker, L.G.1
  • 8
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease
    • Botstein, D., and Risch, N. (2003). Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat. Genet.33, 228-237. doi: 10.1038/ng1090
    • (2003) Nat. Genet , vol.33 , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 10
    • 84855593661 scopus 로고    scopus 로고
    • An integrative variant analysis suite for whole exome next-generation sequencing data
    • Challis, D., Yu, J., Evani, U., Jackson, A., Paithankar, S., Coarfa, C., et al. (2012). An integrative variant analysis suite for whole exome next-generation sequencing data.BMC Bioinformatics13:8. doi: 10.1186/1471-2105-13-8
    • (2012) BMC Bioinformatics , vol.13 , pp. 8
    • Challis, D.1    Yu, J.2    Evani, U.3    Jackson, A.4    Paithankar, S.5    Coarfa, C.6
  • 11
    • 27544474337 scopus 로고    scopus 로고
    • Ascertainment bias in studies of human genomewide polymorphism
    • Clark, A. G., Hubisz, M. J., Bustamante, C. D., Williamson, S. H., and Nielsen, R. (2005). Ascertainment bias in studies of human genomewide polymorphism.Genome Res.15, 1496-1502. doi: 10.1101/gr.4107905
    • (2005) Genome Res , vol.15 , pp. 1496-1502
    • Clark, A.G.1    Hubisz, M.J.2    Bustamante, C.D.3    Williamson, S.H.4    Nielsen, R.5
  • 13
    • 37549003336 scopus 로고    scopus 로고
    • MapReduce: simplified data processing on large clusters
    • Dean, J., and Ghemawat, S. (2008). MapReduce: simplified data processing on large clusters. Commun. ACM 51, 107-113. doi: 10.1145/1327452.1327492
    • (2008) Commun. ACM , vol.51 , pp. 107-113
    • Dean, J.1    Ghemawat, S.2
  • 14
    • 77952557918 scopus 로고    scopus 로고
    • Missing heritability and strategies for finding the underlying causes of complex disease
    • Eichler, E. E., Flint, J., Gibson, G., Kong, A., Leal, S. M., Moore, J. H., et al. (2010). Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet.11, 446-450. doi: 10.1038/nrg2809
    • (2010) Nat. Rev. Genet , vol.11 , pp. 446-450
    • Eichler, E.E.1    Flint, J.2    Gibson, G.3    Kong, A.4    Leal, S.M.5    Moore, J.H.6
  • 15
    • 80052838640 scopus 로고    scopus 로고
    • Unlocking Mendelian disease using exome sequencing
    • Gilissen, C., Hoischen, A., Brunner, H. G., and Veltman, J. A. (2011). Unlocking Mendelian disease using exome sequencing. Genome Biol.12, 228. doi: 10.1186/gb-2011-12-9-228
    • (2011) Genome Biol , vol.12 , pp. 228
    • Gilissen, C.1    Hoischen, A.2    Brunner, H.G.3    Veltman, J.A.4
  • 16
    • 59849113821 scopus 로고    scopus 로고
    • Solution hybrid selection with ultralong oligonucleotides for massively parallel targeted sequencing
    • Gnirke, A., Melnikov, A., Maguire, J., Rogov, P., LeProust, E. M., Brockman, W., et al. (2009). Solution hybrid selection with ultralong oligonucleotides for massively parallel targeted sequencing. Nat. Biotechnol. 27, 182-189. doi: 10.1038/nbt.1523
    • (2009) Nat. Biotechnol , vol.27 , pp. 182-189
    • Gnirke, A.1    Melnikov, A.2    Maguire, J.3    Rogov, P.4    LeProust, E.M.5    Brockman, W.6
  • 17
    • 84861155650 scopus 로고    scopus 로고
    • Exome sequencing generates high quality data in non-target regions
    • Guo, Y., Long, J., He, J., Li, C. I., Cai, Q., Shu, X. O., et al. (2012). Exome sequencing generates high quality data in non-target regions. BMC Genomics13:194. doi: 10.1186/1471-2164-13-194
    • (2012) BMC Genomics , vol.13 , pp. 194
    • Guo, Y.1    Long, J.2    He, J.3    Li, C.I.4    Cai, Q.5    Shu, X.O.6
  • 18
    • 77951028197 scopus 로고    scopus 로고
    • A dataadaptive sum test for disease association with multiple common or rare variants.Hum
    • Han, F., and Pan, W. (2010). A dataadaptive sum test for disease association with multiple common or rare variants.Hum. Hered. 70, 42-54. doi: 10.1159/000288704
    • (2010) Hered , vol.70 , pp. 42-54
    • Han, F.1    Pan, W.2
  • 19
    • 36549021060 scopus 로고    scopus 로고
    • Genome-wide in situ exon capture for selective resequencing
    • Hodges, E., Xuan, Z., Balija, V., Kramer, M., Molla, M. N., Smith, S. W., et al. (2007). Genome-wide in situ exon capture for selective resequencing. Nat. Genet.39, 1522-1527. doi: 10.1038/ng.2007.42
    • (2007) Nat. Genet , vol.39 , pp. 1522-1527
    • Hodges, E.1    Xuan, Z.2    Balija, V.3    Kramer, M.4    Molla, M.N.5    Smith, S.W.6
  • 20
    • 84873085571 scopus 로고    scopus 로고
    • Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
    • Huyghe, J. R., Jackson, A. U., Fogarty, M. P., Buchkovich, M. L., Stančáková, A., Stringham, H. M., et al. (2013). Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat. Genet.45, 197-201. doi: 10.1038/ng.2507
    • (2013) Nat. Genet , vol.45 , pp. 197-201
    • Huyghe, J.R.1    Jackson, A.U.2    Fogarty, M.P.3    Buchkovich, M.L.4    Stančáková, A.5    Stringham, H.M.6
  • 21
    • 79952253512 scopus 로고    scopus 로고
    • A new testing strategy to identify rare variants with either risk or protective effect on disease
    • Ionita-Laza, I., Buxbaum, J. D., Laird, N. M., and Lange, C. (2011). A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet. 7:e1001289. doi: 10.1371/journal. pgen.1001289
    • (2011) PLoS Genet , vol.7
    • Ionita-Laza, I.1    Buxbaum, J.D.2    Laird, N.M.3    Lange, C.4
  • 22
    • 84877046287 scopus 로고    scopus 로고
    • Statistical challenges in sequence-based association studies with population-and family-based designs.Stat
    • Ionita-Laza, I., Cho, M. H., and Laird, N. M. (2013). Statistical challenges in sequence-based association studies with population-and family-based designs.Stat. Biosci. 5, 54-70. doi: 10.1007/s12561-012-9062-9
    • (2013) Biosci , vol.5 , pp. 54-70
    • Ionita-Laza, I.1    Cho, M.H.2    Laird, N.M.3
  • 23
    • 84856112198 scopus 로고    scopus 로고
    • Improving bioinformatic pipelines for exome variant calling
    • Ji, H. P. (2012). Improving bioinformatic pipelines for exome variant calling. Genome Med.4,7.doi: 10.1186/gm306
    • (2012) Genome Med , vol.4 , pp. 7
    • Ji, H.P.1
  • 24
    • 78149371707 scopus 로고    scopus 로고
    • Human genetics. Affordable 'exomes' fill gaps in a catalogue of rare diseases
    • Kaiser, J. (2010). Human genetics. Affordable 'exomes' fill gaps in a catalogue of rare diseases.Science 330, 903. doi: 10.1126/science.330.6006.903
    • (2010) Science , vol.330 , pp. 903
    • Kaiser, J.1
  • 25
    • 79953825909 scopus 로고    scopus 로고
    • Revisiting Mendelian disorders through exome sequencing
    • Ku, C. S., Naidoo, N., and Pawitan, Y. (2011). Revisiting Mendelian disorders through exome sequencing. Hum. Genet. 129, 351-370. doi: 10.1007/s00439-011-0964-2
    • (2011) Hum. Genet , vol.129 , pp. 351-370
    • Ku, C.S.1    Naidoo, N.2    Pawitan, Y.3
  • 26
    • 84859210032 scopus 로고    scopus 로고
    • Fast gapped-read alignment with Bowtie 2
    • Langmead, B., and Salzberg, S. L. (2012). Fast gapped-read alignment with Bowtie 2.Nat. Methods9, 357-359. doi: 10.1038/nmeth.1923
    • (2012) Nat. Methods , vol.9 , pp. 357-359
    • Langmead, B.1    Salzberg, S.L.2
  • 27
    • 62349130698 scopus 로고    scopus 로고
    • Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
    • Langmead, B., Trapnell, C., Pop, M., and Salzberg, S. L. (2009). Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.Genome Biol.10, R25. doi: 10.1186/gb-2009-10-3-r25
    • (2009) Genome Biol , vol.10 , pp. R25
    • Langmead, B.1    Trapnell, C.2    Pop, M.3    Salzberg, S.L.4
  • 28
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
    • Li, B., and Leal, S. M. (2008). Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am. J. Hum. Genet.83, 311-321. doi: 10.1016/j.ajhg.2008.06.024
    • (2008) Am. J. Hum. Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 29
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li, H., and Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics25, 1754-1760. doi: 10.1093/bioinformatics/ btp324
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 30
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li, H., and Durbin, R. (2010). Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26, 589-595. doi: 10.1093/bioinformatics/btp698
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 31
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., et al. (2009a). The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079. doi: 10.1093/bioinformatics/ btp352
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3    Fennell, T.4    Ruan, J.5    Homer, N.6
  • 32
    • 66449114324 scopus 로고    scopus 로고
    • SNP detection for massively parallel whole-genome resequencing
    • Li, R., Li, Y., Fang, X., Yang, H., Wang, J., Kristiansen, K., et al. (2009b). SNP detection for massively parallel whole-genome resequencing. Genome Res. 19, 1124-1132. doi: 10.1101/gr.088013.108
    • (2009) Genome Res , vol.19 , pp. 1124-1132
    • Li, R.1    Li, Y.2    Fang, X.3    Yang, H.4    Wang, J.5    Kristiansen, K.6
  • 33
    • 67650711615 scopus 로고    scopus 로고
    • SOAP2: an improved ultrafast tool for short read alignment
    • Li, R., Yu, C., Li, Y., Lam, T. W., Yiu, S. M., Kristiansen, K., et al. (2009c). SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics25, 1966-1967. doi: 10.1093/bioinformatics/btp336
    • (2009) Bioinformatics , vol.25 , pp. 1966-1967
    • Li, R.1    Yu, C.2    Li, Y.3    Lam, T.W.4    Yiu, S.M.5    Kristiansen, K.6
  • 34
    • 55549097836 scopus 로고    scopus 로고
    • Mapping short DNA sequencing reads and calling variants using mapping quality scores
    • Li, H., Ruan, J., and Durbin, R. (2008). Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 18, 1851-1858. doi: 10.1101/gr.078212.108
    • (2008) Genome Res , vol.18 , pp. 1851-1858
    • Li, H.1    Ruan, J.2    Durbin, R.3
  • 35
    • 80052731371 scopus 로고    scopus 로고
    • A general framework for detecting disease associations with rare variants in sequencing studies
    • Lin, D. Y., and Tang, Z. Z. (2011). A general framework for detecting disease associations with rare variants in sequencing studies. Am. J. Hum. Genet. 89, 354-367. doi: 10.1016/j.ajhg.2011.07.015
    • (2011) Am. J. Hum. Genet , vol.89 , pp. 354-367
    • Lin, D.Y.1    Tang, Z.Z.2
  • 36
    • 61449168010 scopus 로고    scopus 로고
    • A groupwise association test for rare mutations using a weighted sum statistic
    • Madsen, B. E., and Browning, S. R. (2009). A groupwise association test for rare mutations using a weighted sum statistic.PLoS Genet. 5:e1000384. doi: 10.1371/journal. pgen.1000384
    • (2009) PLoS Genet , vol.5
    • Madsen, B.E.1    Browning, S.R.2
  • 39
    • 52949096084 scopus 로고    scopus 로고
    • Next-generation DNA sequencing methods
    • Mardis, E. R. (2008). Next-generation DNA sequencing methods. Annu. Rev. Genomics Hum. Genet.9, 387-402. doi: 10.1146/annurev.genom.9. 081307.164359
    • (2008) Annu. Rev. Genomics Hum. Genet , vol.9 , pp. 387-402
    • Mardis, E.R.1
  • 40
    • 84855853297 scopus 로고    scopus 로고
    • Molecular genetic studies of complex phenotypes
    • Marian, A. J. (2012). Molecular genetic studies of complex phenotypes. Transl. Res.159, 64-79. doi: 10.1016/j.trsl.2011.08.001
    • (2012) Transl. Res , vol.159 , pp. 64-79
    • Marian, A.J.1
  • 41
    • 42349112088 scopus 로고    scopus 로고
    • Genomewide association studies for complex traits: consensus, uncertainty and challenges
    • McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P., et al. (2008). Genomewide association studies for complex traits: consensus, uncertainty and challenges.Nat. Rev. Genet.9, 356-369. doi: 10.1038/nrg2344
    • (2008) Nat. Rev. Genet , vol.9 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3    Goldstein, D.B.4    Little, J.5    Ioannidis, J.P.6
  • 42
    • 77956295988 scopus 로고    scopus 로고
    • The genome analysis toolkit: a MapReduce framework for analyzing nextgeneration DNA sequencing data
    • McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., et al. (2010). The genome analysis toolkit: a MapReduce framework for analyzing nextgeneration DNA sequencing data. Genome Res. 20, 1297-1303. doi: 10.1101/gr.107524.110
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5    Kernytsky, A.6
  • 43
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies-the next generation
    • Metzker, M. L. (2010). Sequencing technologies-the next generation. Nat. Rev. Genet. 11, 31-46. doi: 10.1038/nrg2626
    • (2010) Nat. Rev. Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 44
    • 76649136928 scopus 로고    scopus 로고
    • An evaluation of statistical approaches to rare variant analysis in genetic association studies.Genet
    • Morris, A. P., and Zeggini, E. (2010). An evaluation of statistical approaches to rare variant analysis in genetic association studies.Genet. Epidemiol. 34, 188-193. doi: 10.1002/gepi. 20450
    • (2010) Epidemiol , vol.34 , pp. 188-193
    • Morris, A.P.1    Zeggini, E.2
  • 45
    • 78649755576 scopus 로고    scopus 로고
    • Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
    • Musunuru, K., Pirruccello, J. P., Do, R., Peloso, G. M., Guiducci, C., Sougnez, C., et al. (2010). Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N. Engl. J. Med. 363, 2220-2227. doi: 10.1056/NEJMoa 1002926
    • (2010) N. Engl. J. Med , vol.363 , pp. 2220-2227
    • Musunuru, K.1    Pirruccello, J.P.2    Do, R.3    Peloso, G.M.4    Guiducci, C.5    Sougnez, C.6
  • 46
    • 84872814731 scopus 로고    scopus 로고
    • Analysis of insertiondeletion from deep-sequencing data: software evaluation for optimal detection
    • Neuman, J. A., Isakov, O., and Shomron, N. (2012). Analysis of insertiondeletion from deep-sequencing data: software evaluation for optimal detection.Brief. Bioinform.14, 46-55. doi: 10.1093/bib/bbs013
    • (2012) Brief. Bioinform , vol.14 , pp. 46-55
    • Neuman, J.A.1    Isakov, O.2    Shomron, N.3
  • 48
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a Mendelian disorder
    • Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., et al. (2010b). Exome sequencing identifies the cause of a Mendelian disorder.Nat. Genet.42, 30-35. doi: 10.1038/ng.499
    • (2010) Nat. Genet , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3    Bigham, A.W.4    Tabor, H.K.5    Dent, K.M.6
  • 49
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., et al. (2009). Targeted capture and massively parallel sequencing of 12 human exomes.Nature461, 272-276. doi: 10.1038/nature08250
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3    Flygare, S.D.4    Bigham, A.W.5    Lee, C.6
  • 50
    • 79956314887 scopus 로고    scopus 로고
    • Genotype and SNP calling from nextgeneration sequencing data
    • Nielsen, R., Paul, J. S., Albrechtsen, A., and Song, Y. S. (2011). Genotype and SNP calling from nextgeneration sequencing data.Nat. Rev. Genet.12, 443-451. doi: 10.1038/ nrg2986
    • (2011) Nat. Rev. Genet , vol.12 , pp. 443-451
    • Nielsen, R.1    Paul, J.S.2    Albrechtsen, A.3    Song, Y.S.4
  • 51
    • 79959378465 scopus 로고    scopus 로고
    • Family-based designs for genome-wide association studies
    • Ott, J., Kamatani, Y., and Lathrop, M. (2011). Family-based designs for genome-wide association studies. Nat. Rev. Genet.12, 465-474. doi: 10.1038/nrg2989
    • (2011) Nat. Rev. Genet , vol.12 , pp. 465-474
    • Ott, J.1    Kamatani, Y.2    Lathrop, M.3
  • 53
    • 84855417495 scopus 로고    scopus 로고
    • Customisation of the exome data analysis pipeline using a combinatorial approach
    • Pattnaik, S., Vaidyanathan, S., Pooja, D. G., Deepak, S., and Panda, B. (2012). Customisation of the exome data analysis pipeline using a combinatorial approach. PLoS ONE 7:e30080. doi: 10.1371/journal.pone. 0030080
    • (2012) PLoS ONE , vol.7
    • Pattnaik, S.1    Vaidyanathan, S.2    Pooja, D.G.3    Deepak, S.4    Panda, B.5
  • 54
    • 77953121877 scopus 로고    scopus 로고
    • Pooled association tests for rare variants in exon-resequencing studies
    • Price, A. L., Kryukov, G. V., de Bakker, P. I., Purcell, S. M., Staples, J., Wei, L. J., et al. (2010). Pooled association tests for rare variants in exon-resequencing studies. Am. J. Hum. Genet. 86, 832-838. doi: 10.1016/j.ajhg.2010.04.005
    • (2010) Am. J. Hum. Genet , vol.86 , pp. 832-838
    • Price, A.L.1    Kryukov, G.V.2    de Bakker, P.I.3    Purcell, S.M.4    Staples, J.5    Wei, L.J.6
  • 55
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • Pritchard, J. K. (2001). Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet.69, 124-137. doi: 10.1086/ 321272
    • (2001) Am. J. Hum. Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 56
    • 84867946004 scopus 로고    scopus 로고
    • Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
    • Rabbani, B., Mahdieh, N., Hosomichi, K., Nakaoka, H., and Inoue, I. (2012). Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J. Hum. Genet. 57, 621-632. doi: 10.1038/jhg.2012.91
    • (2012) J. Hum. Genet , vol.57 , pp. 621-632
    • Rabbani, B.1    Mahdieh, N.2    Hosomichi, K.3    Nakaoka, H.4    Inoue, I.5
  • 57
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich, D. E., and Lander, E. S. (2001). On the allelic spectrum of human disease. Trends Genet. 17, 502-510. doi: 10.1016/S0168-9525(01) 02410-6
    • (2001) Trends Genet , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 58
    • 80053978849 scopus 로고    scopus 로고
    • Comparative analysis of algorithms for nextgeneration sequencing read alignment
    • Ruffalo, M., LaFramboise, T., and Koyutürk, M. (2011). Comparative analysis of algorithms for nextgeneration sequencing read alignment.Bioinformatics27, 2790-2796. doi: 10.1093/bioinformatics/ btr477
    • (2011) Bioinformatics , vol.27 , pp. 2790-2796
    • Ruffalo, M.1    LaFramboise, T.2    Koyutürk, M.3
  • 59
    • 68649101805 scopus 로고    scopus 로고
    • Common vs. rare allele hypotheses for complex diseases
    • Schork, N. J., Murray, S. S., Frazer, K. A., and Topol, E. J. (2009). Common vs. rare allele hypotheses for complex diseases. Curr. Opin. Genet. Dev. 19, 212-219. doi: 10.1016/j.gde.2009.04.010
    • (2009) Curr. Opin. Genet. Dev , vol.19 , pp. 212-219
    • Schork, N.J.1    Murray, S.S.2    Frazer, K.A.3    Topol, E.J.4
  • 61
    • 80052832184 scopus 로고    scopus 로고
    • Computational and statistical approaches to analyzing variants identified by exome sequencing
    • Stitziel, N. O., Kiezun, A., and Sunyaev, S. (2011). Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol. 12, 227. doi: 10.1186/gb-2011-12-9-227
    • (2011) Genome Biol , vol.12 , pp. 227
    • Stitziel, N.O.1    Kiezun, A.2    Sunyaev, S.3
  • 62
    • 80052845448 scopus 로고    scopus 로고
    • The promise and limitations of population exomics for human evolution studies
    • Tennessen, J. A., O'Connor, T. D., Bamshad, M. J., and Akey, J. M. (2011). The promise and limitations of population exomics for human evolution studies. Genome Biol. 12, 127. doi: 10.1186/gb-2011-12-9-127
    • (2011) Genome Biol , vol.12 , pp. 127
    • Tennessen, J.A.1    O'Connor, T.D.2    Bamshad, M.J.3    Akey, J.M.4
  • 63
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap Consortium. (2005). A haplotype map of the human genome.Nature437, 1299-1320. doi: 10.1038/nature04226
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 64
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • The International HapMap Consortium. (2007). A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-861. doi: 10.1038/nature06258
    • (2007) Nature , vol.449 , pp. 851-861
  • 66
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test.Am
    • Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., and Lin, X. (2011). Rare-variant association testing for sequencing data with the sequence kernel association test.Am. J. Hum. Genet. 89, 82-93. doi: 10.1016/j.ajhg.2011.05.029
    • (2011) J. Hum. Genet , vol.89 , pp. 82-93
    • Wu, M.C.1    Lee, S.2    Cai, T.3    Li, Y.4    Boehnke, M.5    Lin, X.6
  • 67
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D. R., et al. (2010). Common SNPs explain a large proportion of the heritability for human height.Nat. Genet.42, 565-569. doi: 10.1038/ ng.608
    • (2010) Nat. Genet , vol.42 , pp. 565-569
    • Yang, J.1    Benyamin, B.2    McEvoy, B.P.3    Gordon, S.4    Henders, A.K.5    Nyholt, D.R.6
  • 68
    • 79953167500 scopus 로고    scopus 로고
    • The nextgeneration sequencing technology and application
    • Zhou, X., Ren, L., Meng, Q., Li, Y., Yu, Y., and Yu, J. (2010). The nextgeneration sequencing technology and application. Protein Cell 1, 520-536. doi: 10.1007/s13238-010-0065-3
    • (2010) Protein Cell , vol.1 , pp. 520-536
    • Zhou, X.1    Ren, L.2    Meng, Q.3    Li, Y.4    Yu, Y.5    Yu, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.