ClinVar: improving access to variant interpretations and supporting evidence. Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Jang, W., Karapetyan, K., Katz, K., Liu, C., Maddipatla, Z., Malheiro, A., McDaniel, K., Ovetsky, M., Riley, G., Zhou, G., Holmes, J. B., Kattman, B. L., & Maglott, D. R. Nucleic Acids Research.
ClinVar: improving access to variant interpretations and supporting evidence [link]Paper  doi  abstract   bibtex   
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical testing laboratories, research laboratories, expert panels and other groups. ClinVar aggregates data by variant-disease pairs, and by variant (or set of variants). Data aggregated by variant are accessible on the website, in an improved set of variant call format files and as a new comprehensive XML report. ClinVar recently started accepting submissions that are focused primarily on providing phenotypic information for individuals who have had genetic testing. Submissions may come from clinical providers providing their own interpretation of the variant (‘provider interpretation’) or from groups such as patient registries that primarily provide phenotypic information from patients (‘phenotyping only’). ClinVar continues to make improvements to its search and retrieval functions. Several new fields are now indexed for more precise searching, and filters allow the user to narrow down a large set of search results.
@article{landrum_clinvar_nodate,
	title = {{ClinVar}: improving access to variant interpretations and supporting evidence},
	shorttitle = {{ClinVar}},
	url = {https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkx1153/4641904},
	doi = {10.1093/nar/gkx1153},
	abstract = {ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical testing laboratories, research laboratories, expert panels and other groups. ClinVar aggregates data by variant-disease pairs, and by variant (or set of variants). Data aggregated by variant are accessible on the website, in an improved set of variant call format files and as a new comprehensive XML report. ClinVar recently started accepting submissions that are focused primarily on providing phenotypic information for individuals who have had genetic testing. Submissions may come from clinical providers providing their own interpretation of the variant (‘provider interpretation’) or from groups such as patient registries that primarily provide phenotypic information from patients (‘phenotyping only’). ClinVar continues to make improvements to its search and retrieval functions. Several new fields are now indexed for more precise searching, and filters allow the user to narrow down a large set of search results.},
	urldate = {2017-11-21},
	journal = {Nucleic Acids Research},
	author = {Landrum, Melissa J. and Lee, Jennifer M. and Benson, Mark and Brown, Garth R. and Chao, Chen and Chitipiralla, Shanmuga and Gu, Baoshan and Hart, Jennifer and Hoffman, Douglas and Jang, Wonhee and Karapetyan, Karen and Katz, Kenneth and Liu, Chunlei and Maddipatla, Zenith and Malheiro, Adriana and McDaniel, Kurt and Ovetsky, Michael and Riley, George and Zhou, George and Holmes, J. Bradley and Kattman, Brandi L. and Maglott, Donna R.},
	keywords = {Databases, Nucleic Acid, Disease, Genetic Variation, Humans, Phenotype},
}
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