@article{ghosh_evaluation_2017,
	title = {Evaluation of in silico algorithms for use with {ACMG}/{AMP} clinical variant interpretation guidelines},
	volume = {18},
	issn = {1474-760X},
	url = {https://doi.org/10.1186/s13059-017-1353-5},
	doi = {10.1186/s13059-017-1353-5},
	abstract = {The American College of Medical Genetics and American College of Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely used in diagnostic laboratories for variant interpretation. The ACMG/AMP guidelines recommend complete concordance of predictions among all in silico algorithms used without specifying the number or types of algorithms. The subjective nature of this recommendation contributes to discordance of variant classification among clinical laboratories and prevents definitive classification of variants.},
	urldate = {2017-11-29},
	journal = {Genome Biology},
	author = {Ghosh, Rajarshi and Oak, Ninad and Plon, Sharon E.},
	month = nov,
	year = {2017},
	keywords = {ACMG, ClinVar, Clinical genetics, Diagnostics, In silico algorithm, ROC, Variant interpretation},
	pages = {225},
}

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