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Autor
Bourbon, Mafalda 1 Brunham, Liam R 1 Carrié, Alain 1 Chen, Margaret 1 Chonis, Jessica 1 Chora, Joana R 1 Costa Pereira, Alexandre 1 Freiberger, Tomáš 1 Hegele, Robert A 1 Hooper, Amanda J 1 Humphries, Steve E 1 Iacocca, Michael A 1 Jannes, Cinthia E 1 Johnston, Tami 1 Kim, Serra 1 Knowles, Joshua W 1 Kramarek, Michal 1 Kurtz, C Lisa 1 Leigh, Sarah E 1 Leon, Annette 1
- Organizace
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Pracoviště
Academic Medical Center Erasmus Unive... 1 Ambry Genetics Aliso Viejo CA 1 BioISI BioSystems and Integrative Sci... 1 Bristol Genetics Laboratory North Bri... 1 Center for Inherited Cardiovascular D... 1 Centre for Cardiovascular Genetics In... 1 Centre for Cardiovascular Surgery and... 1 Centre of Molecular Biology and Gene ... 1 Color Health Inc Burlingame CA 1 Department of Clinical Biochemistry P... 1 Department of Genetics School of Medi... 1 Department of Health Promotion and Pr... 1 Department of Medicine Faculty of Med... 1 Department of Paediatric Laboratory M... 1 Departments of Biomedical Data Scienc... 1 Division of Cardiovascular Medicine S... 1 FH Foundation Pasadena CA 1 Faculty of Medicine Masaryk Universit... 1 GeneDx Inc Gaithersburg MD 1 Genomics England London United Kingdom 1
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Autor
Bourbon, Mafalda 1 Brunham, Liam R 1 Carrié, Alain 1 Chen, Margaret 1 Chonis, Jessica 1 Chora, Joana R 1 Costa Pereira, Alexandre 1 Freiberger, Tomáš 1 Hegele, Robert A 1 Hooper, Amanda J 1 Humphries, Steve E 1 Iacocca, Michael A 1 Jannes, Cinthia E 1 Johnston, Tami 1 Kim, Serra 1 Knowles, Joshua W 1 Kramarek, Michal 1 Kurtz, C Lisa 1 Leigh, Sarah E 1 Leon, Annette 1
- Organizace
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Pracoviště
Academic Medical Center Erasmus Unive... 1 Ambry Genetics Aliso Viejo CA 1 BioISI BioSystems and Integrative Sci... 1 Bristol Genetics Laboratory North Bri... 1 Center for Inherited Cardiovascular D... 1 Centre for Cardiovascular Genetics In... 1 Centre for Cardiovascular Surgery and... 1 Centre of Molecular Biology and Gene ... 1 Color Health Inc Burlingame CA 1 Department of Clinical Biochemistry P... 1 Department of Genetics School of Medi... 1 Department of Health Promotion and Pr... 1 Department of Medicine Faculty of Med... 1 Department of Paediatric Laboratory M... 1 Departments of Biomedical Data Scienc... 1 Division of Cardiovascular Medicine S... 1 FH Foundation Pasadena CA 1 Faculty of Medicine Masaryk Universit... 1 GeneDx Inc Gaithersburg MD 1 Genomics England London United Kingdom 1
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Chora, Joana R
Autor Chora, Joana R Department of Health Promotion and Prevention of Noncommunicable Diseases, Nacional Institute of Health Dr. Ricardo Jorge, Lisbon, Portugal BioISI - BioSystems & Integrative Sciences Institute, Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisbon, Lisbon, Portugal
- Iacocca, Michael A
- Tichý, Lukáš
- Wand, Hannah
- Kurtz, C Lisa
- Zimmermann, Heather
- Leon, Annette
- Williams, Maggie
- Humphries, Steve E
- Hooper, Amanda J
NLK
Elsevier Open Access Journals
od 1998-11-01 do Před 1 rokem
ROAD: Directory of Open Access Scholarly Resources
od 1998
PubMed
34906454
DOI
10.1016/j.gim.2021.09.012
Knihovny.cz E-zdroje
PURPOSE: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified. METHODS: The multidisciplinary FH Variant Curation Expert Panel met in person and through frequent emails and conference calls to develop LDLR-specific modifications of ACMG/AMP guidelines. Through iteration, pilot testing, debate, and commentary, consensus among experts was reached. RESULTS: The consensus LDLR variant modifications to existing ACMG/AMP guidelines include (1) alteration of population frequency thresholds, (2) delineation of loss-of-function variant types, (3) functional study criteria specifications, (4) cosegregation criteria specifications, and (5) specific use and thresholds for in silico prediction tools, among others. CONCLUSION: Establishment of these guidelines as the new standard in the clinical laboratory setting will result in a more evidence-based, harmonized method for LDLR variant classification worldwide, thereby improving the care of patients with FH.
- MeSH
- genetická variace genetika MeSH
- genetické testování metody MeSH
- genom lidský * genetika MeSH
- genomika metody MeSH
- hyperlipoproteinemie typ II * genetika MeSH
- lidé MeSH
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- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
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