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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)
- Li D, "Mutations of presenilin genes in dilated cardiomyopathy and heart failure", Am J Hum Genet, 79, pp.1030~1039 (2006)
- Levy-Lahad E, "A familial Alzheimer’s disease locus on chromosome 1", Science, 269, pp.970~973 (1995)
- Cacace R, "Molecular genetics of early-onset Alzheimer’s disease revisited", Alzheimers Dement, 12, pp.733~748 (2016)
- "Korean Supreme Court 2014 da 22871 (Oct 29, 2015, decided). Korean Supreme Court 2001 da 27449 (Jan 11, 2011, decided)"[URL]
- 양미나, "Principles of Genetic Counseling in the Era of Next- Generation Sequencing", Annals of Laboratory Medicine, 38(4), pp.291~295 (2018), 대한진단검사의학회
- Burke MA, "Clinical and mechanistic insights into the genetics of cardiomyopathy", J Am Coll Cardiol, 68, pp.2871~2886 (2016)
- 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)
- Matthijs G, "Guidelines for diagnostic next-generation sequencing", Eur J Hum Genet, 24, pp.1515~ (2016)
- Green RC, "ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing", Genet Med, 15, pp.565~574 (2013)
- 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)
관련 논문AI추천
Principles of Genetic Counseling in the Era of Next- Generation Sequencing김종원, 양미나대한진단검사의학회 · Annals of Laboratory Medicine2018 · 제38권 제4호RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G)이재련, 전사일, Gu Hyunjung, Hong Jinyoung, Lee Woochang, Min Won-Ki, Na Rae대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제3호Recent Advances in the Clinical Application of Next-Generation SequencingChang-Seok Ki대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2021 · 제24권 제1호Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening김명신, 김용구, 박준홍, 장우리, 채효진, Hyun Young Chi대한진단검사의학회 · Annals of Laboratory Medicine2016 · 제36권 제2호Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders기창석, 김영은, 장미애대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제5호[Erratum]Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders기창석, 김영은, 장미애대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제6호
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