메뉴 건너뛰기




Volumn 7, Issue , 2016, Pages

Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry

Author keywords

[No Author keywords available]

Indexed keywords

ANCESTRY; ASTHMA; DATABASE; GENOMICS; MEDICINE; MUTATION;

EID: 84991409036     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms12521     Document Type: Article
Times cited : (62)

References (41)
  • 1
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
    • Yang, Y., et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N. Engl. J. Med. 369, 1502-1511 (2013
    • (2013) N. Engl. J. Med , vol.369 , pp. 1502-1511
    • Yang, Y.1
  • 2
    • 84918840439 scopus 로고    scopus 로고
    • Clinical exome sequencing for genetic identification of rare Mendelian disorders
    • Lee, H., et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312, 1880-1887 (2014
    • (2014) JAMA , vol.312 , pp. 1880-1887
    • Lee, H.1
  • 3
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical wholeexome sequencing
    • Yang, Y., et al. Molecular findings among patients referred for clinical wholeexome sequencing. JAMA 312, 1870-1879 (2014
    • (2014) JAMA , vol.312 , pp. 1870-1879
    • Yang, Y.1
  • 4
    • 84867241644 scopus 로고    scopus 로고
    • Population genetic inference from personal genome data: Impact of ancestry, and admixture on human genomic variation
    • Kidd, J. M., et al. Population genetic inference from personal genome data: impact of ancestry, and admixture on human genomic variation. Am. J. Hum. Genet. 91, 660-671 (2012
    • (2012) Am. J. Hum. Genet , vol.91 , pp. 660-671
    • Kidd, J.M.1
  • 5
    • 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
  • 6
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • 1000 Genomes Project Consortium, et al
    • 1000 Genomes Project Consortium, et al. A global reference for human genetic variation. Nature 526, 68-74 (2015
    • (2015) Nature , vol.526 , pp. 68-74
  • 7
    • 84991369066 scopus 로고    scopus 로고
    • A continuum of admixture in the western hemisphere revealed by the african diaspora genome
    • Mathias, R. A., et al. A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome. Nat. Commun. 7, 12522 (2016
    • (2016) Nat. Commun , vol.7 , pp. 12522
    • Mathias, R.A.1
  • 8
    • 84946081339 scopus 로고    scopus 로고
    • OMIM.org: Online mendelian inheritance in man (omim(r)), an online catalog of human genes, and genetic disorders
    • Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F., & Hamosh, A. OMIM.org: Online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes, and genetic disorders. Nucleic Acids Res. 43, D789-D798 (2015
    • (2015) Nucleic Acids Res , vol.43 , pp. D789-D798
    • Amberger, J.S.1    Bocchini, C.A.2    Schiettecatte, F.3    Scott, A.F.4    Hamosh, A.5
  • 9
    • 84891837451 scopus 로고    scopus 로고
    • The human gene mutation database: Building a comprehensive mutation repository for clinical, and molecular genetics, diagnostic testing, and personalized genomic medicine
    • Stenson, P. D., et al. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical, and molecular genetics, diagnostic testing, and personalized genomic medicine. Hum. Genet. 133, 1-9 (2014
    • (2014) Hum. Genet , vol.133 , pp. 1-9
    • Stenson, P.D.1
  • 10
    • 84891809093 scopus 로고    scopus 로고
    • ClinVar: Public archive of relationships among sequence variation, and human phenotype
    • Landrum, M. J., et al. ClinVar: public archive of relationships among sequence variation, and human phenotype. Nucleic Acids Res. 42, D980-D985 (2014
    • (2014) Nucleic Acids Res , vol.42 , pp. D980-D985
    • Landrum, M.J.1
  • 12
    • 69749122314 scopus 로고    scopus 로고
    • Identification of deleterious mutations within three human genomes
    • Chun, S., & Fay, J. C. Identification of deleterious mutations within three human genomes. Genome Res. 19, 1553-1561 (2009
    • (2009) Genome Res , vol.19 , pp. 1553-1561
    • Chun, S.1    Fay, J.C.2
  • 13
    • 66349086264 scopus 로고    scopus 로고
    • Identifying novel constrained elements by exploiting biased substitution patterns
    • Garber, M., et al. Identifying novel constrained elements by exploiting biased substitution patterns. Bioinformatics 25, i54-i62 (2009
    • (2009) Bioinformatics , vol.25 , pp. i54-i62
    • Garber, M.1
  • 14
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar, P., Henikoff, S., & Ng, P. C. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081 (2009
    • (2009) Nat. Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 15
    • 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. Nat. Methods 7, 248-249 (2010
    • (2010) Nat. Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 16
    • 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 , pp. e1001025
    • Davydov, E.V.1
  • 17
    • 80053189298 scopus 로고    scopus 로고
    • Predicting the functional impact of protein mutations: Application to cancer genomics
    • Reva, B., Antipin, Y., & Sander, C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 39, e118 (2011
    • (2011) Nucleic Acids Res , vol.39 , pp. e118
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 18
    • 84878880551 scopus 로고    scopus 로고
    • Predicting the functional consequences of cancer-associated amino acid substitutions
    • Shihab, H. A., Gough, J., Cooper, D. N., Day, I. N., & Gaunt, T. R. Predicting the functional consequences of cancer-associated amino acid substitutions. Bioinformatics 29, 1504-1510 (2013
    • (2013) Bioinformatics , vol.29 , pp. 1504-1510
    • Shihab, H.A.1    Gough, J.2    Cooper, D.N.3    Day, I.N.4    Gaunt, T.R.5
  • 19
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher, M., et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310-315 (2014
    • (2014) Nat. Genet , vol.46 , pp. 310-315
    • Kircher, M.1
  • 20
    • 84926430386 scopus 로고    scopus 로고
    • Comparison, and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
    • Dong, C., et al. Comparison, and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum. Mol. Genet. 24, 2125-2137 (2015
    • (2015) Hum. Mol. Genet , vol.24 , pp. 2125-2137
    • Dong, C.1
  • 21
    • 84867214350 scopus 로고    scopus 로고
    • Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
    • 154ra135
    • 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
  • 22
    • 84928209346 scopus 로고    scopus 로고
    • Standards, and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics, and genomics, and the association for molecular pathology
    • Richards, S., et al. Standards, and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics, and Genomics, and the Association for Molecular Pathology. Genet. Med. 17, 405-424 (2015
    • (2015) Genet. Med , vol.17 , pp. 405-424
    • Richards, S.1
  • 23
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 1000 Genomes Project Consortium, et al
    • 1000 Genomes Project Consortium, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56-65 (2012
    • (2012) Nature , vol.491 , pp. 56-65
  • 24
    • 84872143942 scopus 로고    scopus 로고
    • Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    • Fu, W., et al. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493, 216-220 (2013
    • (2013) Nature , vol.493 , pp. 216-220
    • Fu, W.1
  • 25
    • 84921818763 scopus 로고    scopus 로고
    • Characteristics of neutral, and deleterious protein-coding variation among individuals, and populations
    • Fu, W., Gittelman, R. M., Bamshad, M. J., & Akey, J. M. Characteristics of neutral, and deleterious protein-coding variation among individuals, and populations. Am. J. Hum. Genet. 95, 421-436 (2014
    • (2014) Am. J. Hum. Genet , vol.95 , pp. 421-436
    • Fu, W.1    Gittelman, R.M.2    Bamshad, M.J.3    Akey, J.M.4
  • 26
    • 84895867277 scopus 로고    scopus 로고
    • The deleterious mutation load is insensitive to recent population history
    • Simons, Y. B., Turchin, M. C., Pritchard, J. K., & Sella, G. The deleterious mutation load is insensitive to recent population history. Nat. Genet. 46, 220-224 (2014
    • (2014) Nat. Genet , vol.46 , pp. 220-224
    • Simons, Y.B.1    Turchin, M.C.2    Pritchard, J.K.3    Sella, G.4
  • 27
    • 84926169268 scopus 로고    scopus 로고
    • No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
    • Do, R., et al. No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans. Nat. Genet. 47, 126-131 (2015
    • (2015) Nat. Genet , vol.47 , pp. 126-131
    • Do, R.1
  • 29
    • 84955508579 scopus 로고    scopus 로고
    • Distance from sub-Saharan Africa predicts mutational load in diverse human genomes
    • Henn, B. M., et al. Distance from sub-Saharan Africa predicts mutational load in diverse human genomes. Proc. Natl Acad. Sci. USA 113, E440-E449 (2016
    • (2016) Proc. Natl Acad. Sci. USA , vol.113 , pp. E440-E449
    • Henn, B.M.1
  • 30
    • 0033866487 scopus 로고    scopus 로고
    • The breast cancer information core: Database design, structure, and scope
    • Szabo, C., Masiello, A., Ryan, J. F., & Brody, L. C. The breast cancer information core: database design, structure, and scope. Hum. Mutat. 16, 123 (2000
    • (2000) Hum. Mutat , vol.16 , pp. 123
    • Szabo, C.1    Masiello, A.2    Ryan, J.F.3    Brody, L.C.4
  • 31
    • 84963640118 scopus 로고    scopus 로고
    • European Bioinformatics Institute Available at (Date accessed 14 October
    • Hindorff, L. A., et al. A Catalog of Published Genome-Wide Association Studies. (European Bioinformatics Institute) Available at: www.genome.gov/gwastudies (Date accessed 14 October 2015
    • (2015) A Catalog of Published Genome-Wide Association Studies
    • Hindorff, L.A.1
  • 32
    • 84937523757 scopus 로고    scopus 로고
    • The human phenotype ontology: Semantic unification of common, and rare disease
    • Groza, T., et al. The human phenotype ontology: semantic unification of common, and rare disease. Am. J. Hum. Genet. 97, 111-124 (2015
    • (2015) Am. J. Hum. Genet , vol.97 , pp. 111-124
    • Groza, T.1
  • 33
    • 77956534324 scopus 로고    scopus 로고
    • Annovar functional annotation of genetic variants from high-throughput sequencing data
    • Wang, K., Li, M., & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010
    • (2010) Nucleic Acids Res , vol.38 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 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
    • 78049419228 scopus 로고    scopus 로고
    • Identifying signatures of natural selection in Tibetan, and Andean populations using dense genome scan data
    • Bigham, A., et al. Identifying signatures of natural selection in Tibetan, and Andean populations using dense genome scan data. PLoS Genet. 6, e1001116 (2010
    • (2010) Plos Genet , vol.6 , pp. e1001116
    • Bigham, A.1
  • 37
    • 79961094832 scopus 로고    scopus 로고
    • Genetic variation in Native Americans, inferred from Latino SNP, and resequencing data
    • Wall, J. D., et al. Genetic variation in Native Americans, inferred from Latino SNP, and resequencing data. Mol. Biol. Evol. 28, 2231-2237 (2011
    • (2011) Mol. Biol. Evol , vol.28 , pp. 2231-2237
    • Wall, J.D.1
  • 38
    • 34548292504 scopus 로고    scopus 로고
    • Plink: A tool set for whole-genome association, and population-based linkage analyses
    • Purcell, S., et al. PLINK: a tool set for whole-genome association, and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007
    • (2007) Am. J. Hum. Genet , vol.81 , pp. 559-575
    • Purcell, S.1
  • 39
    • 69749099417 scopus 로고    scopus 로고
    • Fast model-based estimation of ancestry in unrelated individuals
    • Alexander, D. H., Novembre, J., & Lange, K. Fast model-based estimation of ancestry in unrelated individuals. Genome Res. 19, 1655-1664 (2009
    • (2009) Genome Res , vol.19 , pp. 1655-1664
    • Alexander, D.H.1    Novembre, J.2    Lange, K.3
  • 41


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.