Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Strande, N. T, Riggs, E. R., Buchanan, A. H, Ceyhan-Birsoy, O., DiStefano, M., Dwight, S. S, Goldstein, J., Ghosh, R., Seifert, B. A, Sneddon, T. P, Wright, M. W, Milko, L. V, Cherry, J M., Giovanni, M. A, Murray, M. F, O’Daniel, J. M, Ramos, E. M, Santani, A. B, Scott, A. F, Plon, S. E, Rehm, H. L, Martin, C. L, & Berg, J. S The American Journal of Human Genetics, 100(6):895–906, June, 2017.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource [link]Paper  doi  abstract   bibtex   
\textlessp\textgreaterWith advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these claims varies widely, confounding accurate evaluation of genomic variation in a clinical setting. Despite the critical need to differentiate clinically valid relationships from less well-substantiated relationships, standard guidelines for such evaluation do not currently exist. The NIH-funded Clinical Genome Resource (ClinGen) has developed a framework to define and evaluate the clinical validity of gene-disease pairs across a variety of Mendelian disorders. In this manuscript we describe a proposed framework to evaluate relevant genetic and experimental evidence supporting or contradicting a gene-disease relationship and the subsequent validation of this framework using a set of representative gene-disease pairs. The framework provides a semiquantitative measurement for the strength of evidence of a gene-disease relationship that correlates to a qualitative classification: "Definitive," "Strong," "Moderate," "Limited," "No Reported Evidence," or "Conflicting Evidence." Within the ClinGen structure, classifications derived with this framework are reviewed and confirmed or adjusted based on clinical expertise of appropriate disease experts. Detailed guidance for utilizing this framework and access to the curation interface is available on our website. This evidence-based, systematic method to assess the strength of gene-disease relationships will facilitate more knowledgeable utilization of genomic variants in clinical and research settings.\textless/p\textgreater
@article{strande_evaluating_2017,
	title = {Evaluating the {Clinical} {Validity} of {Gene}-{Disease} {Associations}: {An} {Evidence}-{Based} {Framework} {Developed} by the {Clinical} {Genome} {Resource}},
	volume = {100},
	url = {http://www.cell.com/ajhg/fulltext/S0002-9297(17)30160-X},
	doi = {10.1016/j.ajhg.2017.04.015},
	abstract = {{\textless}p{\textgreater}With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these claims varies widely, confounding accurate evaluation of genomic variation in a clinical setting. Despite the critical need to differentiate clinically valid relationships from less well-substantiated relationships, standard guidelines for such evaluation do not currently exist. The NIH-funded Clinical Genome Resource (ClinGen) has developed a framework to define and evaluate the clinical validity of gene-disease pairs across a variety of Mendelian disorders. In this manuscript we describe a proposed framework to evaluate relevant genetic and experimental evidence supporting or contradicting a gene-disease relationship and the subsequent validation of this framework using a set of representative gene-disease pairs. The framework provides a semiquantitative measurement for the strength of evidence of a gene-disease relationship that correlates to a qualitative classification: "Definitive," "Strong," "Moderate," "Limited," "No Reported Evidence," or "Conflicting Evidence." Within the ClinGen structure, classifications derived with this framework are reviewed and confirmed or adjusted based on clinical expertise of appropriate disease experts. Detailed guidance for utilizing this framework and access to the curation interface is available on our website. This evidence-based, systematic method to assess the strength of gene-disease relationships will facilitate more knowledgeable utilization of genomic variants in clinical and research settings.{\textless}/p{\textgreater}},
	language = {English},
	number = {6},
	journal = {The American Journal of Human Genetics},
	author = {Strande, Natasha T and Riggs, Erin Rooney and Buchanan, Adam H and Ceyhan-Birsoy, Ozge and DiStefano, Marina and Dwight, Selina S and Goldstein, Jenny and Ghosh, Rajarshi and Seifert, Bryce A and Sneddon, Tam P and Wright, Matt W and Milko, Laura V and Cherry, J Michael and Giovanni, Monica A and Murray, Michael F and O’Daniel, Julianne M and Ramos, Erin M and Santani, Avni B and Scott, Alan F and Plon, Sharon E and Rehm, Heidi L and Martin, Christa L and Berg, Jonathan S},
	month = jun,
	year = {2017},
	pmid = {28552198},
	keywords = {ClinGen/Clinical Genome Resource, Genetic Association Studies, Genetic Predisposition to Disease, Genomics, Humans, Mendelian disorders, Reproducibility of Results, biocuration, clinical validity, evidence framework, gene-disease association, genetic testing},
	pages = {895--906},
}
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