A Reference Meta-model to Understand DNA Variant Interpretation Guidelines
Author:
Publisher
Springer Nature Switzerland
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-47262-6_20
Reference55 articles.
1. Adadi, A., et al.: Peeking inside the black-box: a survey on explainable artificial intelligence (XAI). IEEE Access 6, 52138–52160 (2018)
2. Agaoglu, N., et al.: Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels. Eur. J. Hum. Genet. 30, 378–383 (2022)
3. Amendola, L.M., et al.: Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium. Am. J. Hum. Genet. 98, 1067–1076 (2016)
4. Amendola, L.M., et al.: Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies. Am. J. Hum. Genet. 107(5), 932–941 (2020)
5. Anderson, C., et al.: How functional genomics can keep pace with VUS identification. Front. Cardiovasc. Med. 9 (2022)
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