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Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
Harmonization of variant pathogenicity classification across laboratories is important for advancing clinical genomics. The two CLIA-accredited Electronic Medical Record and Genomics Network sequencing centers and the six CLIA-accredited laboratories and one research laboratory performing genome or...
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| Publicado no: | Am J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7675005/ https://ncbi.nlm.nih.gov/pubmed/33108757 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.09.011 |
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