Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance
This study aimed to evaluate inter-laboratory classification concordance for copy number variants (CNVs) with a semiquantitative point-based scoring metric recommended by the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resources (ClinGen). A total of 234 CNVs distrib...
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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Frontiers Media S.A.
2022-03-01
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| Серія: | Frontiers in Genetics |
| Предмети: | |
| Онлайн доступ: | https://www.frontiersin.org/articles/10.3389/fgene.2022.829728/full |
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