The Promise and Peril of Genomic Screening in the General Population
暂无分享,去创建一个
[1] Mads Thomassen,et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. , 2015, JAMA.
[2] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[3] G. Henderson,et al. Genomic Screening of the General Adult Population: Key Concepts for Assessing Net Benefit with Systematic Evidence Reviews , 2014, Genetics in Medicine.
[4] M. King,et al. Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. , 2014, JAMA.
[5] C. Ki,et al. Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis. , 2014, Gene.
[6] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[7] Rodney J Scott,et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database , 2013, Nature Genetics.
[8] Melissa J. Landrum,et al. RefSeq: an update on mammalian reference sequences , 2013, Nucleic Acids Res..
[9] Deanna M. Church,et al. ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..
[10] Emily H Turner,et al. Actionable, pathogenic incidental findings in 1,000 participants' exomes. , 2013, American journal of human genetics.
[11] P. Stenson,et al. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine , 2013, Human Genetics.
[12] C. Tyler-Smith,et al. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease , 2013, Human Genetics.
[13] David L Veenstra,et al. The economics of genomic medicine: insights from the IOM Roundtable on Translating Genomic-Based Research for Health. , 2013, JAMA.
[14] A. Olshan,et al. We screen newborns, don’t we?: realizing the promise of public health genomics , 2013, Genetics in Medicine.
[15] C. Tyler-Smith,et al. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. , 2012, American journal of human genetics.
[16] I. Kohane,et al. Taxonomizing, sizing, and overcoming the incidentalome , 2012, Genetics in Medicine.
[17] A. Spurdle,et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results , 2008, Human mutation.
[18] Muin J. Khoury,et al. Letting the genome out of the bottle--will we get our wish? , 2008, The New England journal of medicine.
[19] Barry Rosen,et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. , 2006, Journal of the National Cancer Institute.
[20] P. Stenson,et al. Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.
[21] E. B. Wilson. Probable Inference, the Law of Succession, and Statistical Inference , 1927 .