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A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting

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참고문헌 (10)

  1. Li D, "Mutations of presenilin genes in dilated cardiomyopathy and heart failure", Am J Hum Genet, 79, pp.1030~1039 (2006)
  2. Levy-Lahad E, "A familial Alzheimer’s disease locus on chromosome 1", Science, 269, pp.970~973 (1995)
  3. Cacace R, "Molecular genetics of early-onset Alzheimer’s disease revisited", Alzheimers Dement, 12, pp.733~748 (2016)
  4. "Korean Supreme Court 2014 da 22871 (Oct 29, 2015, decided). Korean Supreme Court 2001 da 27449 (Jan 11, 2011, decided)"[URL]
  5. 양미나, "Principles of Genetic Counseling in the Era of Next- Generation Sequencing", Annals of Laboratory Medicine, 38(4), pp.291~295 (2018), 대한진단검사의학회
  6. Burke MA, "Clinical and mechanistic insights into the genetics of cardiomyopathy", J Am Coll Cardiol, 68, pp.2871~2886 (2016)
  7. Hershberger RE, "Genetic evaluation of cardiomyopathy : a clinical practice resource of the American College of Medical Genetics and Genomics(ACMG)", Genet Med, 20, pp.899~909 (2018)
  8. Matthijs G, "Guidelines for diagnostic next-generation sequencing", Eur J Hum Genet, 24, pp.1515~ (2016)
  9. Green RC, "ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing", Genet Med, 15, pp.565~574 (2013)
  10. Kalia SS, "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", Genet Med, 19, pp.249~255 (2017)

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