The Promise and Peril of Genomic Screening in the General Population

[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 .