메뉴 건너뛰기




Volumn 23, Issue 12, 2015, Pages 1601-1606

Towards a European consensus for reporting incidental findings during clinical NGS testing

(17)  Hehir Kwa, Jayne Y a,b   Claustres, Mireille c   Hastings, Ros J d   Van Ravenswaaij Arts, Conny e   Christenhusz, Gabrielle f   Genuardi, Maurizio g   Melegh, Béla h   Cambon Thomsen, Anne i   Patsalis, Philippos j   Vermeesch, Joris k   Cornel, Martina C l   Searle, Beverly m   Palotie, Aarno n   Capoluongo, Ettore o   Peterlin, Borut p   Estivill, Xavier q,r,s   Robinson, Peter N t,u  


Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL LABORATORY; CONFERENCE PAPER; CONSENSUS; EUROPE; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; INCIDENTAL FINDING; INFORMED CONSENT; MEDICAL INFORMATION; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; CONSENSUS DEVELOPMENT; DNA SEQUENCE; EUROPEAN UNION; HIGH THROUGHPUT SEQUENCING; PROCEDURES; STANDARDS;

EID: 84948711756     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.111     Document Type: Conference Paper
Times cited : (82)

References (35)
  • 1
    • 84868686559 scopus 로고    scopus 로고
    • Diagnostic exome sequencing in persons with severe intellectual disability
    • de Ligt J, Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Medicine 2012; 367: 1921-1929
    • (2012) N Engl J Medicine , vol.367 , pp. 1921-1929
    • De Ligt, J.1    Willemsen, M.H.2    Van Bon, B.W.3
  • 2
    • 84868543309 scopus 로고    scopus 로고
    • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
    • Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674-1682
    • (2012) Lancet , vol.380 , pp. 1674-1682
    • Rauch, A.1    Wieczorek, D.2    Graf, E.3
  • 3
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    • Yang Y, MuznyDM, ReidJGet al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The N Engl J Medicine 2013; 369: 1502-1511
    • (2013) The N Engl J Medicine , vol.369 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3
  • 4
    • 84907284564 scopus 로고    scopus 로고
    • Effective diagnosis of genetic disease by computational phenotype analysis of the disease-Associated genome
    • Zemojtel T, Kohler S, Mackenroth L, et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-Associated genome. Sci Tansl Med 2014; 6: 252ra123
    • (2014) Sci Tansl Med , vol.6 , pp. 252ra123
    • Zemojtel, T.1    Kohler, S.2    Mackenroth, L.3
  • 5
    • 84878354128 scopus 로고    scopus 로고
    • Point-counterpoint Ethics and genomic incidental findings
    • McGuire AL, Joffe S, Koenig BA, et al. Point-counterpoint. Ethics and genomic incidental findings. Science (New York, NY) 2013; 340: 1047-1048
    • (2013) Science (New York, NY , vol.340 , pp. 1047-1048
    • McGuire, A.L.1    Joffe, S.2    Koenig, B.A.3
  • 7
    • 84878364688 scopus 로고    scopus 로고
    • Point-counterpoint Patient autonomy and incidental findings in clinical genomics
    • Wolf SM, Annas GJ, Elias S. Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science (New York, NY) 2013; 340: 1049-1050
    • (2013) Science (New York, NY , vol.340 , pp. 1049-1050
    • Wolf, S.M.1    Annas, G.J.2    Elias, S.3
  • 9
    • 84887474444 scopus 로고    scopus 로고
    • Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
    • Berg JS, Amendola LM, Eng C, et al. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med 2013; 15: 860-867
    • (2013) Genet Med , vol.15 , pp. 860-867
    • Berg, J.S.1    Amendola, L.M.2    Eng, C.3
  • 10
    • 84925247962 scopus 로고    scopus 로고
    • Predictive Genetic Testing for Adult-Onset Disorders in Minors: A Critical Analysis of the Arguments for and Against the 2013 ACMG guidelines
    • Anderson JA, Hayeems R, Shuman C, et al. Predictive Genetic Testing for Adult-Onset Disorders in Minors: A Critical Analysis of the Arguments For and Against the 2013 ACMG guidelines. Clin Genet 2014; 87: 301-310
    • (2014) Clin Genet , vol.87 , pp. 301-310
    • Anderson, J.A.1    Hayeems, R.2    Shuman, C.3
  • 11
    • 85017901344 scopus 로고    scopus 로고
    • Actors and tools of predictive genetics: ethics at the heart of governance] Acteurs et outils de la prédiction génétique: léthique au coeur de la gouvernance
    • Cambon-Thomsen A. [Actors and tools of predictive genetics: ethics at the heart of governance] Acteurs et outils de la prédiction génétique: léthique au coeur de la gouvernance. Journal international de bioéthique et déthique des sciences 2014; 25: 165-174
    • (2014) Journal International de Bioéthique et Déthique des Sciences , vol.25 , pp. 165-174
    • Cambon-Thomsen, A.1
  • 12
    • 84883897500 scopus 로고    scopus 로고
    • ACMG clinical laboratory standards for next-generation sequencing
    • Rehm HL, Bale SJ, Bayrak-Toydemir P, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med 2013; 15: 733-747
    • (2013) Genet Med , vol.15 , pp. 733-747
    • Rehm, H.L.1    Bale, S.J.2    Bayrak-Toydemir, P.3
  • 14
    • 84899476119 scopus 로고    scopus 로고
    • Guidelines for investigating causality of sequence variants in human disease
    • MacArthur DG, Manolio TA, Dimmock DP, et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014; 508: 469-476
    • (2014) Nature , vol.508 , pp. 469-476
    • MacArthur, D.G.1    Manolio, T.A.2    Dimmock, D.P.3
  • 15
    • 84880515119 scopus 로고    scopus 로고
    • Not-so-incidental findings: The ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing
    • Allyse M, Michie M. Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol 2013; 31: 439-441
    • (2013) Trends Biotechnol , vol.31 , pp. 439-441
    • Allyse, M.1    Michie, M.2
  • 17
    • 84885295208 scopus 로고    scopus 로고
    • Actionable, pathogenic incidental findings in 1, 000 participants' exomes
    • Dorschner MO, Amendola LM, Turner EH, et al. Actionable, pathogenic incidental findings in 1, 000 participants' exomes. Am J Hum Genet 2013; 93: 631-640
    • (2013) Am J Hum Genet , vol.93 , pp. 631-640
    • Dorschner, M.O.1    Amendola, L.M.2    Turner, E.H.3
  • 18
    • 84991491933 scopus 로고    scopus 로고
    • The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience
    • Lawrence L, Sincan M, Markello T, et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med 2014; 16: 741-750
    • (2014) Genet Med , vol.16 , pp. 741-750
    • Lawrence, L.1    Sincan, M.2    Markello, T.3
  • 20
    • 55549101314 scopus 로고    scopus 로고
    • Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
    • Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Human Mutation 2008; 29: 1282-1291
    • (2008) Human Mutation , vol.29 , pp. 1282-1291
    • Plon, S.E.1    Eccles, D.M.2    Easton, D.3
  • 21
    • 84895789502 scopus 로고    scopus 로고
    • Application of a 5-Tiered scheme for standardized classification of 2, 360 unique mismatch repair gene variants in the InSiGHT locus-specific database
    • Thompson BA, Spurdle AB, Plazzer JP, et al. Application of a 5-Tiered scheme for standardized classification of 2, 360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 2014; 46: 107-115
    • (2014) Nat Genet , vol.46 , pp. 107-115
    • Thompson, B.A.1    Spurdle, A.B.2    Plazzer, J.P.3
  • 23
    • 84892821784 scopus 로고    scopus 로고
    • Recommendations for reporting results of diagnostic genetic testing (biochemical cytogenetic and molecular genetic)
    • Claustres M, Kozich V, Dequeker E, et al. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet 2013; 22: 160-170
    • (2013) Eur J Hum Genet , vol.22 , pp. 160-170
    • Claustres, M.1    Kozich, V.2    Dequeker, E.3
  • 24
    • 84881420673 scopus 로고    scopus 로고
    • Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics
    • van El CG, Cornel MC, Borry P, et al. Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet 2013; 21: 580-584
    • (2013) Eur J Hum Genet , vol.21 , pp. 580-584
    • Van El, C.G.1    Cornel, M.C.2    Borry, P.3
  • 25
    • 84881347061 scopus 로고    scopus 로고
    • American College of Medical Genetics and Genomics: Incidental findings in clinical genomics: a clarification
    • American College of Medical Genetics and Genomics: Incidental findings in clinical genomics: a clarification Genet Med 2013 15 664-666
    • (2013) Genet Med , vol.15 , pp. 664-666
  • 26
    • 34047134976 scopus 로고    scopus 로고
    • AGV Consortium Analysis of published PKD1 gene sequence variants
    • Gout AM, Ravine D. AGV Consortium Analysis of published PKD1 gene sequence variants. Nat Genet 2007; 39: 427-428
    • (2007) Nat Genet , vol.39 , pp. 427-428
    • Gout, A.M.1    Ravine, D.2
  • 27
    • 78651393550 scopus 로고    scopus 로고
    • Carrier testing for severe childhood recessive diseases by next-generation sequencing
    • Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011; 3: 65ra64
    • (2011) Sci Transl Med , vol.3 , pp. 65ra64
    • Bell, C.J.1    Dinwiddie, D.L.2    Miller, N.A.3
  • 28
    • 84874956296 scopus 로고    scopus 로고
    • Management of familial hypercholesterolemia: A review of the recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Robinson JG. Management of familial hypercholesterolemia: a review of the recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Manag Care Pharm 2013; 19: 139-149
    • (2013) J Manag Care Pharm , vol.19 , pp. 139-149
    • Robinson, J.G.1
  • 30
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 31
    • 84897456458 scopus 로고    scopus 로고
    • MutationTaster2: Mutation prediction for the deep-sequencing age
    • Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014; 11: 361-362
    • (2014) Nat Methods , vol.11 , pp. 361-362
    • Schwarz, J.M.1    Cooper, D.N.2    Schuelke, M.3    Seelow, D.4
  • 33
    • 84875312984 scopus 로고    scopus 로고
    • Low concordance of multiple variant-calling pipelines: Practical implications for exome and genome sequencing
    • O'Rawe J, Jiang T, Sun G, et al. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med 2013; 5: 28
    • (2013) Genome Med , vol.5 , pp. 28
    • O'Rawe, J.1    Jiang, T.2    Sun, G.3
  • 35
    • 84877292144 scopus 로고    scopus 로고
    • Incidental variants are critical for genomics
    • Biesecker Leslie G. Incidental Variants Are Critical for Genomics. Am J Hum Genet 2013; 92: 648-651
    • (2013) Am J Hum Genet , vol.92 , pp. 648-651
    • Biesecker Leslie, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.