ClinVar: improving access to variant interpretations and supporting evidence

Autor: Jennifer M. Lee, George R. Riley, Chen Chao, Kurt McDaniel, Brandi L. Kattman, Donna Maglott, Zenith Maddipatla, Melissa J. Landrum, Baoshan Gu, Douglas W. Hoffman, Kenneth S. Katz, Garth Brown, J. Bradley Holmes, Mark L. Benson, George Zhou, Karen Karapetyan, Chunlei Liu, Shanmuga Chitipiralla, Michael Ovetsky, Malheiro Aj, Wonhee Jang, Jennifer Hart

Publikováno v: Nucleic Acids Research

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 sig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093ae270a1616614cdabe12da24c0614
http://europepmc.org/articles/PMC5753237

Personalizing cancer treatment using gene activity scores with the NIH Medical Genetics Summaries

Autor: Brandi L. Kattman, Malheiro Aj, Dean Lc

Publikováno v: Journal of Clinical Oncology. 37:e22000-e22000

e22000 Background: Oncology professionals need to access a wide range of genetic tests, including tests for cancer biomarkers, predisposition to hereditary cancers, and pharmacogenetic tests. While pharmacogenetic testing is fundamental to personaliz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::569696d98b024291c00c3a4c893e7869
https://doi.org/10.1200/jco.2019.37.15_suppl.e22000

Landscape scanning of cancer gene panels: A report from the NIH Genetic Testing Registry (GTR)

Autor: Malheiro Aj, Brandi L. Kattman, Kenneth S. Katz, Vichet Hem, Guangfeng Song, Craig Wallin, Wendy S. Rubinstein, Baoshan Gu, Michael Ovetsky, Jennifer M. Lee, Donna Maglott, Ricardo Villamarin-Salomon

Publikováno v: Journal of Clinical Oncology. 34:e13120-e13120

e13120Background: Genetic testing of tumors and germlines has proliferated in oncology, as gauged by ASCO’s meeting topics and the medical literature. A quantitative appraisal of orderable genetic ...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c57d76c794ec377b37d8710f97c180aa
https://doi.org/10.1200/jco.2016.34.15_suppl.e13120

The NIH genetic testing registry: Hereditary, pharmacogenetic, and somatic tests for oncology practice

Autor: Malheiro Aj, Ricardo Villamarin-Salomon, Craig Wallin, Brandi L. Kattman, Guangfeng Song, Donna Maglott, Cathy Fomous, Kenneth S. Katz, James Ostell, Michael Ovetsky, Wendy S. Rubinstein, Vichet Hem, Baoshan Gu, Jennifer M. Lee

Publikováno v: Journal of Clinical Oncology. 32:11104-11104

11104 Background: Oncology professionals need to access and gauge information about tests for hereditary cancer predisposition, biomarkers, pharmacogenetic dosing and risk-based chemoprevention. NI...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::55bfdc1da3b0126a3c07c372afdba53c
https://doi.org/10.1200/jco.2014.32.15_suppl.11104

Codeine Therapy and CYP2D6 Genotype

Autor: Pratt VM; Director, Pharmacogenomics and Molecular Genetics Laboratories, Professor, Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, Scott SA; Professor, Department of Pathology Stanford University, Palo Alto, CA 94305; Director, Stanford Medicine Clinical Genomics Laboratory, Stanford, CA 94305, Pirmohamed M; David Weatherall Chair of Medicine and UK National Health Service Chair of Pharmacogenetics, University of Liverpool, Liverpool, UK; Director, MRC Centre for Drug Safety Science and Wolfson Centre for Personalized Medicine, University of Liverpool, Liverpool, UK; Director, Health Data Research UK North, Liverpool, UK; President, British Pharmacological Society, London, UK, Esquivel B; President of the Latin American Association of Personalized Medicine,; Chief Medical Officer - OneOme, Minneapolis, MN, Kane MS; Medical Genetics Curator, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, Kattman BL; Chief, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, Malheiro AJ; Project Lead, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894

Publikováno v: 2012.