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Volumn 140, Issue 4, 2017, Pages

Rapid targeted genomics in critically ill newborns

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CRITICALLY ILL PATIENT; DIAGNOSTIC VALUE; EIF2B5 GENE; EPG5 GENE; FEMALE; GENE; GENE MUTATION; GENOMICS; GFER GENE; GLB1 GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; INTENSIVE CARE UNIT; KLHL41 GENE; MALE; NEWBORN; PILOT STUDY; PRIORITY JOURNAL; PROSPECTIVE STUDY; RAPID TEST; RETROSPECTIVE STUDY; RMND1 GENE; TURNAROUND TIME; WHOLE GENOME SEQUENCING; CLINICAL TRIAL; CRITICAL ILLNESS; DELAYED DIAGNOSIS; DNA SEQUENCE; FOLLOW UP; GENETIC DISEASES, INBORN; GENETIC MARKER; GENETICS; MUTATION; NEWBORN INTENSIVE CARE; PREVENTION AND CONTROL; PROCEDURES; TIME FACTOR;

EID: 85030630513     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2016-2854     Document Type: Article
Times cited : (101)

References (37)
  • 1
    • 85030623079 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM). Accessed July 22, 2016
    • Online Mendelian Inheritance in Man (OMIM). OMIM Entry Statistics. Available at: www. omim. org/ statistics/ entry. Accessed July 22, 2016
    • OMIM Entry Statistics
  • 3
    • 84867214350 scopus 로고    scopus 로고
    • Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
    • Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012;4(154): 154ra135
    • (2012) Sci Transl Med , vol.4 , Issue.154 , pp. 154ra135
    • Saunders, C.J.1    Miller, N.A.2    Soden, S.E.3
  • 4
    • 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 LK, Petrikin JE, Smith LD, 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. 2015;3(5):377-387
    • (2015) Lancet Respir Med , vol.3 , Issue.5 , pp. 377-387
    • Willig, L.K.1    Petrikin, J.E.2    Smith, L.D.3
  • 5
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754-1760
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 7
    • 77956295988 scopus 로고    scopus 로고
    • The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna A, Hanna M, Banks E, et al. The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9): 1297-1303
    • (2010) Genome Res , vol.20 , Issue.9 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3
  • 8
    • 84896009017 scopus 로고    scopus 로고
    • From FastQ data to high confidence variant calls: The genome analysis toolkit best practices pipeline
    • 11.10.1-11.10.33
    • Van der Auwera GA, Carneiro MO, Hartl C, et al. From FastQ data to high confidence variant calls: The genome analysis toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
    • (2013) Curr Protoc Bioinformatics , vol.43
    • Van Der Auwera, G.A.1    Carneiro, M.O.2    Hartl, C.3
  • 9
    • 84959273307 scopus 로고    scopus 로고
    • National Human Genome Research Institute, Accessed October 20, 2014
    • National Human Genome Research Institute. Clinical genomic database. Available at: Http:// research. nhgri. nih. gov/ CGD/ . Accessed October 20, 2014
    • Clinical Genomic Database
  • 10
    • 85030643505 scopus 로고    scopus 로고
    • Cambridge, MA: Exome Aggregation Consortium
    • ExAC Browser (Beta). Version 0.3. Cambridge, MA: Exome Aggregation Consortium; 2015.
    • (2015) ExAC Browser (Beta). Version 0.3
  • 11
    • 84857121123 scopus 로고    scopus 로고
    • NHLBI GO Exome Sequencing Project (ESP).
    • NHLBI GO Exome Sequencing Project (ESP). Exome Variant Server. Available at: Http:// evs. gs. washington. edu/ EVS/
    • Exome Variant Server
  • 12
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • 1000 Genomes Project Consortium.
    • Abecasis GR, Auton A, Brooks LD, et al; 1000 Genomes Project Consortium. An integrated map of genetic variation from 1, 092 human genomes. Nature. 2012;491(7422):56-65
    • (2012) Nature , vol.491 , Issue.7422 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 14
    • 84905579746 scopus 로고    scopus 로고
    • Whole-genome sequence variation, population structure and demographic history of the Dutch population
    • Genome of the Netherlands Consortium.
    • Genome of the Netherlands Consortium. Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nat Genet. 2014;46(8):818-825
    • (2014) Nat Genet , vol.46 , Issue.8 , pp. 818-825
  • 15
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310-315
    • (2014) Nat Genet , vol.46 , Issue.3 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 16
    • 78650817030 scopus 로고    scopus 로고
    • The MOLGENIS toolkit: Rapid prototyping of biosoftware at the push of a button
    • Swertz MA, Dijkstra M, Adamusiak T, et al. The MOLGENIS toolkit: Rapid prototyping of biosoftware at the push of a button. BMC Bioinformatics. 2010;11(suppl 12):S12
    • (2010) BMC Bioinformatics , vol.11 , pp. S12
    • Swertz, M.A.1    Dijkstra, M.2    Adamusiak, T.3
  • 17
    • 85030644329 scopus 로고    scopus 로고
    • Groningen, Netherlands: University Medical Center Groningen
    • MOLGENIS. Version 1.4.0. Groningen, Netherlands: University Medical Center Groningen; 2015.
    • (2015) MOLGENIS. Version 1.4.0
  • 18
    • 85030641425 scopus 로고    scopus 로고
    • Hudson-Alpha Institute for Biotechnology, Accessed April 1, 2014
    • Hudson-Alpha Institute for Biotechnology. Combined Annotation Dependent Depletion (CADD) scores. Version 1.0. Available at: Http:// cadd. gs. washington. edu/ download. Accessed April 1, 2014
    • Combined Annotation Dependent Depletion (CADD) Scores. Version 1.0
  • 19
    • 85030647800 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM).
    • Online Mendelian Inheritance in Man (OMIM). Morbid Map. 2014.
    • (2014) Morbid Map
  • 20
    • 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
    • ACMG Laboratory Quality Assurance Committee.
    • Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. 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. 2015;17(5):405-424
    • (2015) Genet Med , vol.17 , Issue.5 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 21
    • 84891749517 scopus 로고    scopus 로고
    • The human phenotype ontology project: Linking molecular biology and disease through phenotype data
    • Kohler S, Doelken SC, Mungall CJ, et al. The human phenotype ontology project: Linking molecular biology and disease through phenotype data. Nucleic Acids Res. 2014;42(Database issue):D966-D974
    • (2014) Nucleic Acids Res , vol.42 , pp. D966-D974
    • Kohler, S.1    Doelken, S.C.2    Mungall, C.J.3
  • 22
    • 84871952426 scopus 로고    scopus 로고
    • Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
    • Cullup T, Kho AL, Dionisi-Vici C, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet. 2013;45(1):83-87
    • (2013) Nat Genet , vol.45 , Issue.1 , pp. 83-87
    • Cullup, T.1    Kho, A.L.2    Dionisi-Vici, C.3
  • 23
    • 84890264637 scopus 로고    scopus 로고
    • Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
    • Gupta VA, Ravenscroft G, Shaheen R, et al. Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am J Hum Genet. 2013;93(6):1108-1117
    • (2013) Am J Hum Genet , vol.93 , Issue.6 , pp. 1108-1117
    • Gupta, V.A.1    Ravenscroft, G.2    Shaheen, R.3
  • 24
    • 84867252179 scopus 로고    scopus 로고
    • An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect
    • Janer A, Antonicka H, Lalonde E, et al. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. Am J Hum Genet. 2012;91(4):737-743
    • (2012) Am J Hum Genet , vol.91 , Issue.4 , pp. 737-743
    • Janer, A.1    Antonicka, H.2    Lalonde, E.3
  • 25
    • 84903618205 scopus 로고    scopus 로고
    • Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
    • Taylor RW, Pyle A, Griffin H, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014;312(1):68-77
    • (2014) JAMA , vol.312 , Issue.1 , pp. 68-77
    • Taylor, R.W.1    Pyle, A.2    Griffin, H.3
  • 26
    • 65149105599 scopus 로고    scopus 로고
    • The mitochondrial disulfide relay system protein GFER is mutated in autosomalrecessive myopathy with cataract and combined respiratory-chain deficiency
    • Di Fonzo A, Ronchi D, Lodi T, et al. The mitochondrial disulfide relay system protein GFER is mutated in autosomalrecessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009;84(5):594-604
    • (2009) Am J Hum Genet , vol.84 , Issue.5 , pp. 594-604
    • Di Fonzo, A.1    Ronchi, D.2    Lodi, T.3
  • 27
    • 18344386777 scopus 로고    scopus 로고
    • Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
    • Leegwater PAJ, Vermeulen G, Konst AAM, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet. 2001;29(4):383-388
    • (2001) Nat Genet , vol.29 , Issue.4 , pp. 383-388
    • Leegwater, P.A.J.1    Vermeulen, G.2    Konst, A.A.M.3
  • 28
    • 80051690654 scopus 로고    scopus 로고
    • Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes
    • Liu R, van der Lei HD, Wang X, et al. Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. Hum Mutat. 2011;32(9):1036-1045
    • (2011) Hum Mutat , vol.32 , Issue.9 , pp. 1036-1045
    • Liu, R.1    Van Der Lei, H.D.2    Wang, X.3
  • 29
    • 34948884155 scopus 로고    scopus 로고
    • Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients
    • Santamaria R, Chabas A, Callahan JW, Grinberg D, Vilageliu L. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. J Lipid Res. 2007;48(10):2275-2282
    • (2007) J Lipid Res , vol.48 , Issue.10 , pp. 2275-2282
    • Santamaria, R.1    Chabas, A.2    Callahan, J.W.3    Grinberg, D.4    Vilageliu, L.5
  • 30
    • 84959432964 scopus 로고    scopus 로고
    • CoNVaDING: Single exon variation detection in targeted NGS data
    • Johansson LF, van Dijk F, de Boer EN, et al. CoNVaDING: Single exon variation detection in targeted NGS data. Hum Mutat. 2016;37(5):457-464
    • (2016) Hum Mutat , vol.37 , Issue.5 , pp. 457-464
    • Johansson, L.F.1    Van Dijk, F.2    De Boer, E.N.3
  • 31
    • 38849085346 scopus 로고    scopus 로고
    • Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
    • [published correction appears in Pediatrics. 2008;121(5):1081]
    • Battaglia A, Hoyme HE, Dallapiccola B, et al. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation [published correction appears in Pediatrics. 2008;121(5):1081]. Pediatrics. 2008;121(2):404-410
    • (2008) Pediatrics , vol.121 , Issue.2 , pp. 404-410
    • Battaglia, A.1    Hoyme, H.E.2    Dallapiccola, B.3
  • 33
    • 84958105945 scopus 로고    scopus 로고
    • Utility of wholeexome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care
    • FORGE Canada Consortium; Care4Rare Canada Consortium.
    • Sawyer SL, Hartley T, Dyment DA, et al; FORGE Canada Consortium; Care4Rare Canada Consortium. Utility of wholeexome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care. Clin Genet. 2016;89(3):275-284
    • (2016) Clin Genet , vol.89 , Issue.3 , pp. 275-284
    • Sawyer, S.L.1    Hartley, T.2    Dyment, D.A.3
  • 34
    • 84985041034 scopus 로고    scopus 로고
    • Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
    • Monroe GR, Frederix GW, Savelberg SM, et al. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. Genet Med. 2016;18(9):949-956
    • (2016) Genet Med , vol.18 , Issue.9 , pp. 949-956
    • Monroe, G.R.1    Frederix, G.W.2    Savelberg, S.M.3
  • 35
    • 84946084988 scopus 로고    scopus 로고
    • Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: A pediatric center's experience
    • Valencia CA, Husami A, Holle J, et al. Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: A pediatric center's experience. Front Pediatr. 2015;3:67
    • (2015) Front Pediatr , vol.3 , pp. 67
    • Valencia, C.A.1    Husami, A.2    Holle, J.3
  • 36
    • 84994107989 scopus 로고    scopus 로고
    • A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
    • Melbourne Genomics Health Alliance.
    • Stark Z, Tan TY, Chong B, et al; Melbourne Genomics Health Alliance. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18(11):1090-1096
    • (2016) Genet Med , vol.18 , Issue.11 , pp. 1090-1096
    • Stark, Z.1    Tan, T.Y.2    Chong, B.3
  • 37
    • 84959324664 scopus 로고    scopus 로고
    • Outcome of whole exome sequencing for diagnostic Odyssey cases of an individualized medicine clinic: The Mayo Clinic experience
    • Individualized Medicine Clinic Members.
    • Lazaridis KN, Schahl KA, Cousin MA, et al; Individualized Medicine Clinic Members. Outcome of whole exome sequencing for diagnostic Odyssey cases of an individualized medicine clinic: The Mayo Clinic experience. Mayo Clin Proc. 2016;91(3):297-307
    • (2016) Mayo Clin Proc , vol.91 , Issue.3 , pp. 297-307
    • Lazaridis, K.N.1    Schahl, K.A.2    Cousin, M.A.3


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