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...
Salvato in:
| Autori principali: | , , , , , |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2022-03-01
|
| Serie: | Frontiers in Genetics |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fgene.2022.829728/full |
| Tags: |
Nessun Tag, puoi essere il primo ad aggiungerne!!
|