메뉴 건너뛰기




Volumn 19, Issue 2, 2017, Pages 249-255

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics

(17)  Kalia, Sarah S a   Adelman, Kathy b   Bale, Sherri J c   Chung, Wendy K d   Eng, Christine e   Evans, James P f   Herman, Gail E g   Hufnagel, Sophia B h   Klein, Teri E i   Korf, Bruce R j   McKelvey, Kent D k,l   Ormond, Kelly E i   Richards, C Sue m   Vlangos, Christopher N n   Watson, Michael o   Martin, Christa L p   Miller, David T q  


Author keywords

Exome sequencing; Genetic testing; Genome sequencing; Incidental fndings; Secondary fndings

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; SMAD4 PROTEIN; WILSON DISEASE PROTEIN;

EID: 85011835129     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.190     Document Type: Article
Times cited : (1334)

References (22)
  • 1
    • 84880535720 scopus 로고    scopus 로고
    • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    • Green RC, Berg JS, Grody WW, et al.; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-574.
    • (2013) Genet Med , vol.15 , pp. 565-574
    • Green, R.C.1    Berg, J.S.2    Grody, W.W.3
  • 2
    • 84907493840 scopus 로고    scopus 로고
    • Anticipate and communicate: Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts (December 2013 report of the Presidential Commission for the Study of Bioethical Issues)
    • Weiner C. Anticipate and communicate: ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts (December 2013 report of the Presidential Commission for the Study of Bioethical Issues). Am J Epidemiol 2014;180:562-564.
    • (2014) Am J Epidemiol , vol.180 , pp. 562-564
    • Weiner, C.1
  • 3
    • 84920528362 scopus 로고    scopus 로고
    • ACMG policy statement: Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
    • ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med 2015;17:68-69.
    • (2015) Genet Med , vol.17 , pp. 68-69
  • 4
    • 84920545337 scopus 로고    scopus 로고
    • Reporting genomic secondary findings: ACMG members weigh in
    • Scheuner M T, Peredo J, Benkendorf J, et al. Reporting genomic secondary findings: ACMG members weigh in. Genet Med 2015;17:27-35.
    • (2015) Genet Med , vol.17 , pp. 27-35
    • Scheuner, M.T.1    Peredo, J.2    Benkendorf, J.3
  • 5
    • 84930526399 scopus 로고    scopus 로고
    • ClinGen-The Clinical Genome Resource
    • ClinGen
    • Rehm HL, Berg JS, Brooks LD, et al.; ClinGen. ClinGen-the Clinical Genome Resource. N Engl J Med 2015;372:2235-2242.
    • (2015) N Engl J Med , vol.372 , pp. 2235-2242
    • Rehm, H.L.1    Berg, J.S.2    Brooks, L.D.3
  • 6
    • 85000578287 scopus 로고    scopus 로고
    • A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
    • Hunter JE IS, Biesecker LG, Buchanan A, et al. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med. 2016;18:467-475.
    • (2016) Genet Med. , vol.18 , pp. 467-475
    • Hunter, J.E.I.S.1    Biesecker, L.G.2    Buchanan, A.3
  • 7
    • 85011909790 scopus 로고    scopus 로고
    • ClinGen. Actionability Working Group Evidence-based Summaries Accessed 23 August, 2016
    • ClinGen. Actionability Working Group Evidence-based Summaries. https://clinicalgenome.org/working-groups/actionability/projects-initiatives/actionability-evidence-based-summaries. Accessed 23 August, 2016.
  • 8
    • 78249244459 scopus 로고    scopus 로고
    • Mutations in myosin light chain kinase cause familial aortic dissections
    • Wang L, Guo DC, Cao J, et al. Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet 2010;87:701-707.
    • (2010) Am J Hum Genet , vol.87 , pp. 701-707
    • Wang, L.1    Guo, D.C.2    Cao, J.3
  • 11
    • 46249112793 scopus 로고    scopus 로고
    • Diagnosis and treatment of Wilson disease: An update
    • Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology 2008;47:2089-2111.
    • (2008) Hepatology , vol.47 , pp. 2089-2111
    • Roberts, E.A.1    Schilsky, M.L.2
  • 15
    • 0027074530 scopus 로고
    • The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency
    • Tuchman M. The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency. J Lab Clin Med 1992;120:836-850.
    • (1992) J Lab Clin Med , vol.120 , pp. 836-850
    • Tuchman, M.1
  • 16
    • 0022642207 scopus 로고
    • Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency
    • Batshaw ML, Msall M, Beaudet AL, Trojak J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr 1986;108:236-241.
    • (1986) J Pediatr , vol.108 , pp. 236-241
    • Batshaw, M.L.1    Msall, M.2    Beaudet, A.L.3    Trojak, J.4
  • 17
    • 0347949709 scopus 로고    scopus 로고
    • Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency
    • Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw ML. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 2004;55:80-86.
    • (2004) Ann Neurol , vol.55 , pp. 80-86
    • Gyato, K.1    Wray, J.2    Huang, Z.J.3    Yudkoff, M.4    Batshaw, M.L.5
  • 18
    • 0035145334 scopus 로고    scopus 로고
    • Alternative pathway therapy for urea cycle disorders: Twenty years later
    • discussion S54
    • Batshaw ML, MacArthur RB, Tuchman M. Alternative pathway therapy for urea cycle disorders: twenty years later. J Pediatr 2001;138(1 suppl):S46-54; discussion S54.
    • (2001) J Pediatr , vol.138 , Issue.1 , pp. S46-54
    • Batshaw, M.L.1    MacArthur, R.B.2    Tuchman, M.3
  • 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
    • 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;17:405-424.
    • (2015) Genet Med , vol.17 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 21
    • 84959299788 scopus 로고    scopus 로고
    • Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1, 696 neonates
    • Bodian DL, Klein E, Iyer RK, et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1, 696 neonates. Genet Med 2016;18:221-230.
    • (2016) Genet Med , vol.18 , pp. 221-230
    • Bodian, D.L.1    Klein, E.2    Iyer, R.K.3
  • 22
    • 84949266797 scopus 로고    scopus 로고
    • Potential uses and inherent challenges of using genome-scale sequencing to augment current newborn screening
    • Berg JS, Powell CM. Potential uses and inherent challenges of using genome-scale sequencing to augment current newborn screening. Cold Spring Harb Perspect Med. 2015;5:pii: a023150.
    • (2015) Cold Spring Harb Perspect Med. , vol.5
    • Berg, J.S.1    Powell, C.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.