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Volumn 1, Issue , 2016, Pages

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(63)  Stavropoulos, Dimitri J a,b   Merico, Daniele a,c   Jobling, Rebekah a   Bowdin, Sarah a,d   Monfared, Nasim a   Thiruvahindrapuram, Bhooma a,c   Nalpathamkalam, Thomas a,c   Pellecchia, Giovanna a,c   Yuen, Ryan K C a,c   Szego, Michael J b,c,d   Hayeems, Robin Z a   Shaul, Randi Zlotnik a,d   Brudno, Michael a,d   Girdea, Marta a   Frey, Brendan b,d   Alipanahi, Babak b   Ahmed, Sohnee a   Babul Hirji, Riyana a,b   Porras, Ramses Badilla a   Carter, Melissa T a,d   more..

f NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84995732984     PISSN: None     EISSN: 20567944     Source Type: Journal    
DOI: 10.1038/npjgenmed.2015.12     Document Type: Article
Times cited : (283)

References (46)
  • 1
    • 84941178180 scopus 로고    scopus 로고
    • Global, regional, and national causes of child mortality in 2000-13, with projections to inform post-2015 priorities: An updated systematic analysis
    • Liu, L. et al. Global, regional, and national causes of child mortality in 2000-13, with projections to inform post-2015 priorities: An updated systematic analysis. Lancet 385, 430-440 (2015).
    • (2015) Lancet , vol.385 , pp. 430-440
    • Liu, L.1
  • 2
    • 0037432002 scopus 로고    scopus 로고
    • Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
    • Shevell, M. et al. Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 60, 367-380 (2003).
    • (2003) Neurology , vol.60 , pp. 367-380
    • Shevell, M.1
  • 3
    • 0347003513 scopus 로고    scopus 로고
    • The burden of genetic disease on inpatient care in a children's hospital
    • McCandless, S. E., Brunger, J. W. & Cassidy, S. B. The burden of genetic disease on inpatient care in a children's hospital. Am. J. Hum. Genet. 74, 121-127 (2004).
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 121-127
    • McCandless, S.E.1    Brunger, J.W.2    Cassidy, S.B.3
  • 4
    • 0031278632 scopus 로고    scopus 로고
    • The impact of birth defects and genetic diseases
    • Hall, J. G. The impact of birth defects and genetic diseases. Arch. Pediatr. Adolesc. Med. 151, 1082-1083 (1997).
    • (1997) Arch. Pediatr. Adolesc. Med. , vol.151 , pp. 1082-1083
    • Hall, J.G.1
  • 5
    • 80052592396 scopus 로고    scopus 로고
    • Chromosomal microarray testing influences medical management
    • Coulter, M. E. et al. Chromosomal microarray testing influences medical management. Genet. Med. 13, 770-776 (2011).
    • (2011) Genet. Med. , vol.13 , pp. 770-776
    • Coulter, M.E.1
  • 6
    • 77952690350 scopus 로고    scopus 로고
    • The clinical context of copy number variation in the human genome
    • Lee, C. & Scherer, S. W. The clinical context of copy number variation in the human genome. Expert Rev. Mol. Med. 12, e8 (2010).
    • (2010) Expert Rev. Mol. Med. , vol.12 , pp. e8
    • Lee, C.1    Scherer, S.W.2
  • 7
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-Tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller, D. T. et al. Consensus statement: chromosomal microarray is a first-Tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86, 749-764 (2010).
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 749-764
    • Miller, D.T.1
  • 8
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical whole-exome sequencing
    • Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-1879 (2014).
    • (2014) JAMA , vol.312 , pp. 1870-1879
    • Yang, Y.1
  • 9
    • 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
  • 10
    • 84884534186 scopus 로고    scopus 로고
    • Detection of clinically relevant copy number variants with whole-exome sequencing
    • de Ligt, J. et al. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum. Mutat. 34, 1439-1448 (2013).
    • (2013) Hum. Mutat. , vol.34 , pp. 1439-1448
    • De Ligt, J.1
  • 11
    • 84892737572 scopus 로고    scopus 로고
    • Performance of high-Throughput sequencing for the discovery of genetic variation across the complete size spectrum
    • Bethesda
    • Pang, A. W., Macdonald, J. R., Yuen, R. K., Hayes, V. M. & Scherer, S. W. Performance of high-Throughput sequencing for the discovery of genetic variation across the complete size spectrum. G3 (Bethesda) 4, 63-65 (2014).
    • (2014) G3 , vol.4 , pp. 63-65
    • Pang, A.W.1    Macdonald, J.R.2    Yuen, R.K.3    Hayes, V.M.4    Scherer, S.W.5
  • 12
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski, J. R. et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 362, 1181-1191 (2010).
    • (2010) N. Engl. J. Med. , vol.362 , pp. 1181-1191
    • Lupski, J.R.1
  • 13
    • 84861130735 scopus 로고    scopus 로고
    • Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis
    • Herdewyn, S. et al. Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 2412-2419 (2012).
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 2412-2419
    • Herdewyn, S.1
  • 14
    • 84893973335 scopus 로고    scopus 로고
    • Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning
    • Bae, B. I. et al. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science 343, 764-768 (2014).
    • (2014) Science , vol.343 , pp. 764-768
    • Bae, B.I.1
  • 15
    • 84891347416 scopus 로고    scopus 로고
    • Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
    • Weedon, M. N. et al. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat. Genet. 46, 61-64 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 61-64
    • Weedon, M.N.1
  • 16
    • 84881664021 scopus 로고    scopus 로고
    • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    • Jiang, Y. H. et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am. J. Hum. Genet. 93, 249-263 (2013).
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 249-263
    • Jiang, Y.H.1
  • 17
    • 84904465224 scopus 로고    scopus 로고
    • Genome sequencing identifies major causes of severe intellectual disability
    • Gilissen, C. et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 511, 344-347 (2014).
    • (2014) Nature , vol.511 , pp. 344-347
    • Gilissen, C.1
  • 18
    • 84933279272 scopus 로고    scopus 로고
    • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
    • Taylor, J. C. et al. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat. Genet. 47, 717-726 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 717-726
    • Taylor, J.C.1
  • 19
    • 70350448684 scopus 로고    scopus 로고
    • Whole genome scanning: Resolving clinical diagnosis and management amidst complex data
    • Ali-Khan, S. E., Daar, A. S., Shuman, C., Ray, P. N. & Scherer, S. W. Whole genome scanning: Resolving clinical diagnosis and management amidst complex data. Pediatr. Res. 66, 357-363 (2009).
    • (2009) Pediatr. Res. , vol.66 , pp. 357-363
    • Ali-Khan, S.E.1    Daar, A.S.2    Shuman, C.3    Ray, P.N.4    Scherer, S.W.5
  • 20
    • 84880535720 scopus 로고    scopus 로고
    • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    • Green, R. C. et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15, 565-574 (2013).
    • (2013) Genet. Med. , vol.15 , pp. 565-574
    • Green, R.C.1
  • 21
    • 84948711756 scopus 로고    scopus 로고
    • Towards a European consensus for reporting incidental findings during clinical NGS testing
    • Hehir-Kwa, J. Y. et al. Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur. J. Hum. Genet. 23, 1601-1606 (2015).
    • (2015) Eur. J. Hum. Genet. , vol.23 , pp. 1601-1606
    • Hehir-Kwa, J.Y.1
  • 22
    • 79960812993 scopus 로고    scopus 로고
    • American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
    • Working Group of the American College of Medical Genetics Laboratory Quality Assurance C et al
    • Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F. & South, S. T. Working Group of the American College of Medical Genetics Laboratory Quality Assurance Cet al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet. Med. 13, 680-685 (2011).
    • (2011) Genet. Med. , vol.13 , pp. 680-685
    • Kearney, H.M.1    Thorland, E.C.2    Brown, K.K.3    Quintero-Rivera, F.4    South, S.T.5
  • 23
    • 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
  • 24
    • 84922628604 scopus 로고    scopus 로고
    • Whole-genome sequencing of quartet families with autism spectrum disorder
    • Yuen, R. K. et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat. Med. 21, 185-191 (2015).
    • (2015) Nat. Med. , vol.21 , pp. 185-191
    • Yuen, R.K.1
  • 25
    • 84926522440 scopus 로고    scopus 로고
    • Genetic diagnosis of developmental disorders in the DDD study: A scalable analysis of genome-wide research data
    • Wright, C. F. et al. Genetic diagnosis of developmental disorders in the DDD study: A scalable analysis of genome-wide research data. Lancet 385, 1305-1314 (2015).
    • (2015) Lancet , vol.385 , pp. 1305-1314
    • Wright, C.F.1
  • 26
    • 84915803267 scopus 로고    scopus 로고
    • Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
    • Soden, S. E. et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci. Transl. Med. 6, 265ra168 (2014).
    • (2014) Sci. Transl. Med. , vol.6 , pp. 265ra168
    • Soden, S.E.1
  • 27
    • 84929026065 scopus 로고    scopus 로고
    • Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: A retrospective analysis of diagnostic and clinical findings
    • Willig, L. K. et al. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: A retrospective analysis of diagnostic and clinical findings. Lancet Respir. Med. 3, 377-387 (2015).
    • (2015) Lancet Respir. Med. , vol.3 , pp. 377-387
    • Willig, L.K.1
  • 28
    • 84880508099 scopus 로고    scopus 로고
    • PhenoTips: Patient phenotyping software for clinical and research use
    • Girdea, M. et al. PhenoTips: patient phenotyping software for clinical and research use. Hum. Mutat. 34, 1057-1065 (2013).
    • (2013) Hum. Mutat. , vol.34 , pp. 1057-1065
    • Girdea, M.1
  • 29
    • 84954358609 scopus 로고    scopus 로고
    • The human phenotype ontology: A tool for annotating and analyzing human hereditary disease
    • Robinson, P. N. et al. The Human Phenotype Ontology: A tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 83, 610-615 (2008).
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 610-615
    • Robinson, P.N.1
  • 30
    • 74949138753 scopus 로고    scopus 로고
    • Human genome sequencing using unchained base reads on self-Assembling DNA nanoarrays
    • Drmanac, R. et al. Human genome sequencing using unchained base reads on self-Assembling DNA nanoarrays. Science 327, 78-81 (2010).
    • (2010) Science , vol.327 , pp. 78-81
    • Drmanac, R.1
  • 31
    • 84859319800 scopus 로고    scopus 로고
    • Computational techniques for human genome resequencing using mated gapped reads
    • Carnevali, P. et al. Computational techniques for human genome resequencing using mated gapped reads. J. Comput. Biol. 19, 279-292 (2012).
    • (2012) J. Comput. Biol. , vol.19 , pp. 279-292
    • Carnevali, P.1
  • 32
    • 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
  • 33
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from populationscale sequencing
    • Genomes Project C. et al
    • Genomes Project C. et al. A map of human genome variation from populationscale sequencing. Nature 467, 1061-1073 (2010).
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 34
    • 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
  • 35
    • 74949092081 scopus 로고    scopus 로고
    • Detection of nonneutral substitution rates on mammalian phylogenies
    • Pollard, K. S., Hubisz, M. J., Rosenbloom, K. R. & Siepel, A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 20, 110-121 (2010).
    • (2010) Genome Res. , vol.20 , pp. 110-121
    • Pollard, K.S.1    Hubisz, M.J.2    Rosenbloom, K.R.3    Siepel, A.4
  • 36
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng, P. C. & Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863-874 (2001).
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 37
    • 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
  • 38
    • 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
  • 39
    • 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
  • 40
    • 84923276179 scopus 로고    scopus 로고
    • RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
    • Xiong, H. Y. et al. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science 347, 1254806 (2015).
    • (2015) Science , vol.347 , pp. 1254806
    • Xiong, H.Y.1
  • 41
    • 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
  • 42
    • 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
  • 44
    • 26844450908 scopus 로고    scopus 로고
    • The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information
    • Smith, C. L., Goldsmith, C. A. & Eppig, J. T. The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information. Genome Biol. 6, R7 (2005).
    • (2005) Genome Biol , vol.6 , pp. R7
    • Smith, C.L.1    Goldsmith, C.A.2    Eppig, J.T.3
  • 45
    • 84891783452 scopus 로고    scopus 로고
    • The Database of Genomic Variants: A curated collection of structural variation in the human genome
    • MacDonald, J. R., Ziman, R., Yuen, R. K., Feuk, L. & Scherer, S. W. The Database of Genomic Variants: A curated collection of structural variation in the human genome. Nucleic Acids Res. 42, D986-D992 (2014).
    • (2014) Nucleic Acids Res. , vol.42 , pp. D986-D992
    • MacDonald, J.R.1    Ziman, R.2    Yuen, R.K.3    Feuk, L.4    Scherer, S.W.5
  • 46
    • 79958162661 scopus 로고    scopus 로고
    • Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
    • Pinto, D. et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat. Biotechnol. 29, 512-520 (2011).
    • (2011) Nat. Biotechnol. , vol.29 , pp. 512-520
    • Pinto, D.1


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