Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network
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Marylyn D. Ritchie | Andrea Hartzler | James Ralston | David S. Hanna | Deborah A. Nickerson | Iftikhar J. Kullo | Stephanie M. Fullerton | David R. Crosslin | Gail P. Jarvik | Gerard Tromp | Amber Burt | Paul K. Crane | David S. Carrell | Eric B. Larson | Adam S. Gordon | Aaron Scrol | Mariza de Andrade | Peggy D. Robertson | Kathleen Leppig | Eric Baldwin | Kimberly F. Doheny
[1] Pablo Cingolani,et al. © 2012 Landes Bioscience. Do not distribute. , 2022 .
[2] Teri E. Klein,et al. Incorporation of Pharmacogenomics into Routine Clinical Practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline Development Process , 2014, Current drug metabolism.
[3] S. Batzoglou,et al. Distribution and intensity of constraint in mammalian genomic sequence. , 2005, Genome research.
[4] R. Fulton,et al. PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation , 2016, Pharmacogenetics and genomics.
[5] Wendy A. Wolf,et al. The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies , 2011, BMC Medical Genomics.
[6] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[7] I. C. O. B. Nomenclature. IUPAC-IUB Commission on Biochemical Nomenclature. Abbreviations and symbols for the description of the conformation of polypeptide chains. Tentative rules (1969). , 1970, Biochemistry.
[8] Peter Tarczy-Hornoch,et al. Refining the structure and content of clinical genomic reports , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.
[9] D. Valle,et al. Online Mendelian Inheritance In Man (OMIM) , 2000, Human mutation.
[10] P. Stenson,et al. The Human Gene Mutation Database: 2008 update , 2009, Genome Medicine.
[11] M. Eichelbaum,et al. Drug Metabolism in Thyroid Disease , 1976, Clinical pharmacokinetics.
[12] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[13] Suzette J. Bielinski,et al. Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems , 2014, Clinical pharmacology and therapeutics.
[14] Deanna M. Church,et al. ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..
[15] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[16] R. Altman,et al. Pharmacogenomics Knowledge for Personalized Medicine , 2012, Clinical pharmacology and therapeutics.
[17] Melissa A. Basford,et al. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future , 2013, Genetics in Medicine.
[18] T. Klein,et al. CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network , 2011, Clinical pharmacology and therapeutics.
[19] IUPAC‐IUB Joint Commission on Biochemical Nomenclature Abbreviations and Symbols for the Description of Conformations of Polynucleotide Chains , 2000, Current protocols in nucleic acid chemistry.
[20] J. Rashbass. Online Mendelian Inheritance in Man. , 1995, Trends in genetics : TIG.
[21] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.