Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Nikhil Wagle | Peter Tarczy-Hornoch | Richard M Myers | Steven Joffe | Bartha M Knoppers | Deborah A Nickerson | Katrina A B Goddard | Carolyn M Hutter | Barbara A Koenig | Heidi L Rehm | Holly K Tabor | Susan M Wolf | Laura M Amendola | Jonathan S Berg | Leslie G Biesecker | Sawona Biswas | Kevin M Bowling | Ellen W Clayton | Gregory M Cooper | Levi A Garraway | Robert C Green | Gail P Jarvik | Ingrid A Holm | Paul S Appelbaum | Julia Wynn | David L Veenstra | Richard R Sharp | Stephanie M Fullerton | Lucia A Hindorff | Jeffrey Ou | Arul M Chinnaiyan | Jean McEwen | Wylie Burke | Joseph S. Salama | Donna Muzny | Kyle B Brothers | Wendy K Chung | Barbara A Bernhardt | Teri A Manolio | Brian Shirts | W. Chung | I. Krantz | N. Spinner | R. Myers | D. Nickerson | R. Green | S. Fullerton | A. Chinnaiyan | D. Muzny | L. Garraway | H. Rehm | B. Knoppers | E. Clayton | J. Mcewen | G. Cooper | K. Goddard | T. Manolio | D. Parsons | J. Roberts | L. Hindorff | B. Wilfond | G. Henderson | James P Evans | A. McGuire | J. Berg | L. Biesecker | P. Appelbaum | B. Bernhardt | K. Wilhelmsen | K. Bowling | P. Janne | C. Hutter | G. Petersen | P. Tarczy-Hornoch | G. Jarvik | S. Plon | H. Tabor | R. Sharp | W. Burke | J. Wynn | B. Koenig | I. Holm | S. Joffe | M. Lewis | D. Veenstra | N. Wagle | C. Blout | B. Shirts | K. Brothers | S. Gray | Dave Kaufman | K. East | Daniel H. Robinson | J. Garrett | S. Wolf | L. Mccullough | L. Amendola | Jeffrey Ou | Joon-Ho Yu | J Scott Roberts | Gloria M Petersen | Sawona Biswas | S. Scollon | K. Weck | Charlisse F Caga-Anan | Benjamin S Wilfond | Kirk Wilhelmsen | Sharon E Plon | David Kaufman | Amy McGuire | Michelle Huckaby Lewis | Ian D Krantz | Sarah Scollon | Stacy W Gray | Carrie L Blout | Nancy B Spinner | Kelly East | Jeremy R Garrett | Gail E Henderson | Pasi A Janne | Laurence McCullough | Donald W Parsons | Dan Robinson | Joseph S Salama | Karen Weck | Joon-Ho Yu | J. Evans | D. W. Parsons | J. Roberts | D. Muzny

[1]  Matthew S. Lebo,et al.  Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. , 2016, American journal of human genetics.

[2]  Tao Wang,et al.  Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. , 2016, JAMA oncology.

[3]  A. Chinnaiyan,et al.  Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories. , 2016, Journal of the National Cancer Institute.

[4]  R. Gibbs,et al.  Is Whole‐Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors , 2016, Pediatric blood & cancer.

[5]  D. Ledbetter,et al.  Toward clinical genomics in everyday medicine: perspectives and recommendations , 2016, Expert review of molecular diagnostics.

[6]  R. Green,et al.  Participants and Study Decliners’ Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing , 2016, Journal of empirical research on human research ethics : JERHRE.

[7]  Denise L. Perry,et al.  Are physicians prepared for whole genome sequencing? a qualitative analysis , 2016, Clinical genetics.

[8]  R. Green,et al.  Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project. , 2016, Personalized medicine.

[9]  R. Green,et al.  Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle , 2015, Transfusion.

[10]  Debra Skinner,et al.  “Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing , 2016, Journal of Genetic Counseling.

[11]  R. Green,et al.  Assessing the Costs and Cost-Effectiveness of Genomic Sequencing , 2015, Journal of personalized medicine.

[12]  Jennifer M. Taber,et al.  The role of current affect, anticipated affect and spontaneous self-affirmation in decisions to receive self-threatening genetic risk information , 2015, Cognition & emotion.

[13]  Christopher G. Chute,et al.  CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record , 2015, J. Am. Medical Informatics Assoc..

[14]  Denise L. Perry,et al.  Experiences with obtaining informed consent for genomic sequencing , 2015, American journal of medical genetics. Part A.

[15]  W. Chung,et al.  Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice , 2015, Pediatrics.

[16]  Javed Siddiqui,et al.  The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing , 2015, Genome research.

[17]  R. Green,et al.  Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the “Benefit to Families” , 2015, Journal of Law, Medicine & Ethics.

[18]  S. Wolf,et al.  International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access , 2015, Journal of Law, Medicine & Ethics.

[19]  S. Wolf Return of Research Results: What about the Family? , 2015, Journal of Law, Medicine & Ethics.

[20]  W. Burke,et al.  Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide , 2015, Journal of Law, Medicine & Ethics.

[21]  Nallasivam Palanisamy,et al.  Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. , 2015, JAMA.

[22]  J. Berg,et al.  High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. , 2015, American journal of ophthalmology.

[23]  Jeffrey W. Pennington,et al.  Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death , 2015, Human Genomics.

[24]  Gail P Jarvik,et al.  The cost-effectiveness of returning incidental findings from next-generation genomic sequencing , 2014, Genetics in Medicine.

[25]  K. Goddard,et al.  “Is It Worth Knowing?” Focus Group Participants’ Perceived Utility of Genomic Preconception Carrier Screening , 2015, Journal of Genetic Counseling.

[26]  B. Bernhardt,et al.  Illustrative case studies in the return of exome and genome sequencing results , 2015, Personalized medicine.

[27]  Larry N. Singh,et al.  Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. , 2015, American journal of human genetics.

[28]  Heidi L Rehm,et al.  ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.

[29]  Gail P Jarvik,et al.  The FDA and genomic tests--getting regulation right. , 2015, The New England journal of medicine.

[30]  Robert C. Green,et al.  How to know when physicians are ready for genomic medicine , 2015, Science Translational Medicine.

[31]  Avni Santani,et al.  Actionable exomic incidental findings in 6503 participants: challenges of variant classification , 2015, Genome research.

[32]  Michael S Watson,et al.  Genetic testing and FDA regulation: overregulation threatens the emergence of genomic medicine. , 2015, JAMA.

[33]  Robert C Green,et al.  GINA, genetic discrimination, and genomic medicine. , 2015, The New England journal of medicine.

[34]  Robert C Green,et al.  How behavioral economics can help to avoid ‘The last mile problem’ in whole genome sequencing , 2015, Genome Medicine.

[35]  Robert C. Green,et al.  A One-Page Summary Report of Genome Sequencing for the Healthy Adult , 2015, Public Health Genomics.

[36]  Jennifer M. Taber,et al.  Information Avoidance Tendencies, Threat Management Resources, and Interest in Genetic Sequencing Feedback , 2015, Annals of behavioral medicine : a publication of the Society of Behavioral Medicine.

[37]  R. Green,et al.  'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project. , 2015, Personalized medicine.

[38]  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.

[39]  J. Roberts,et al.  How Can Psychological Science Inform Research About Genetic Counseling for Clinical Genomic Sequencing? , 2015, Journal of Genetic Counseling.

[40]  Matthew S. Lebo,et al.  A systematic approach to the reporting of medically relevant findings from whole genome sequencing , 2014, BMC Medical Genetics.

[41]  Magalie S Leduc,et al.  Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.

[42]  John A. Lynch,et al.  Practical guidance on informed consent for pediatric participants in a biorepository. , 2014, Mayo Clinic proceedings.

[43]  P. Ubel,et al.  Why Information Alone Is Not Enough: Behavioral Economics and the Future of Genomic Medicine , 2014, Annals of Internal Medicine.

[44]  M. Dorschner,et al.  Regulatory changes raise troubling questions for genomic testing , 2014, Genetics in Medicine.

[45]  Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients , 2014, Genome Medicine.

[46]  Peter Tarczy-Hornoch,et al.  Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. , 2014, Contemporary clinical trials.

[47]  B. Evans Economic Regulation of Next-Generation Sequencing , 2014, Journal of Law, Medicine & Ethics.

[48]  B. Knoppers,et al.  The Challenge of Informed Consent and Return of Results in Translational Genomics: Empirical Analysis and Recommendations , 2014, Journal of Law, Medicine & Ethics.

[49]  Peter N. Robinson,et al.  Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology , 2014, BMC Bioinformatics.

[50]  A. Chinnaiyan,et al.  Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings. , 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[51]  Seema M Jamal,et al.  Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. , 2014, American journal of human genetics.

[52]  B. Bernhardt Genetic counselors and the future of clinical genomics , 2014, Genome Medicine.

[53]  B. Koenig Have we asked too much of consent? , 2014, The Hastings Center report.

[54]  W. Chung,et al.  Models of consent to return of incidental findings in genomic research. , 2014, The Hastings Center report.

[55]  Leslie G Biesecker,et al.  Diagnostic clinical genome and exome sequencing. , 2014, The New England journal of medicine.

[56]  Heidi L Rehm,et al.  Return of genomic results to research participants: the floor, the ceiling, and the choices in between. , 2014, American journal of human genetics.

[57]  B. Berkman,et al.  A Framework for Analyzing the Ethics of Disclosing Genetic Research Findings , 2014, Journal of Law, Medicine & Ethics.

[58]  W. Klein,et al.  How do research participants perceive “uncertainty” in genomic sequencing? , 2014, Genetics in Medicine.

[59]  In-Hee Lee,et al.  Prioritizing Disease‐Linked Variants, Genes, and Pathways with an Interactive Whole‐Genome Analysis Pipeline , 2014, Human mutation.

[60]  W. Chung,et al.  Processes and factors involved in decisions regarding return of incidental genomic findings in research , 2013, Genetics in Medicine.

[61]  B. Knoppers,et al.  Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings , 2014, Genome research.

[62]  Heidi L Rehm,et al.  American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss , 2014, Genetics in Medicine.

[63]  Isaac S Kohane,et al.  The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine , 2014, Trials.

[64]  R. Green,et al.  Parents' Preferences for Return of Results in Pediatric Genomic Research , 2014, Public Health Genomics.

[65]  A. McGuire,et al.  Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group , 2014, Genetics in Medicine.

[66]  Gail P Jarvik,et al.  Return of results: Ethical and legal distinctions between research and clinical care , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[67]  Jessica N Everett,et al.  Traditional Roles in a Non-Traditional Setting: Genetic Counseling in Precision Oncology , 2014, Journal of Genetic Counseling.

[68]  E. Clayton,et al.  Addressing the Ethical Challenges in Genetic Testing and Sequencing of Children , 2014, The American journal of bioethics : AJOB.

[69]  L. Biesecker,et al.  Preferences for results delivery from Exome Sequencing/Genome Sequencing , 2013, Genetics in Medicine.

[70]  Paul S. Appelbaum,et al.  Informed consent for return of incidental findings in genomic research , 2013, Genetics in Medicine.

[71]  J. Roberts,et al.  Summarizing polygenic risks for complex diseases in a clinical whole-genome report , 2014 .

[72]  Victoria A. Miller,et al.  Stakeholders’ Opinions on the Implementation of Pediatric Whole Exome Sequencing: Implications for Informed Consent , 2014, Journal of Genetic Counseling.

[73]  Robert C. Green,et al.  Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium , 2013, Genetics in Medicine.

[74]  J. Mullikin,et al.  Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations , 2013, Anesthesiology.

[75]  L. Biesecker,et al.  Essential Role of the m2R-RGS6-IKACh Pathway in Controlling Intrinsic Heart Rate Variability , 2013, PloS one.

[76]  R. Green,et al.  Genomic medicine in primary care: barriers and assets , 2013, Postgraduate Medical Journal.

[77]  Matthew S. Lebo,et al.  A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record , 2013, Genetics in Medicine.

[78]  B. Evans Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[79]  Iftikhar J. Kullo,et al.  Ethical, legal, and social implications of incorporating genomic information into electronic health records , 2013, Genetics in Medicine.

[80]  Larry N. Singh,et al.  Interpreting Secondary Cardiac Disease Variants in an Exome Cohort , 2013, Circulation. Cardiovascular genetics.

[81]  Joshua L. Deignan,et al.  ACMG clinical laboratory standards for next-generation sequencing , 2013, Genetics in Medicine.

[82]  Paul S. Appelbaum,et al.  Return of secondary genomic findings vs patient autonomy: implications for medical care. , 2013, JAMA.

[83]  J. Lupski,et al.  Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. , 2013, JAMA.

[84]  W. Chung,et al.  Incidental findings in the era of whole genome sequencing? , 2013, The Hastings Center report.

[85]  W. Chung,et al.  Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings , 2013, Genetics in Medicine.

[86]  B. Knoppers,et al.  Recommendations for returning genomic incidental findings? We need to talk! , 2013, Genetics in Medicine.

[87]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[88]  Melissa A. Basford,et al.  The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future , 2013, Genetics in Medicine.

[89]  Robert C. Green,et al.  Ethics and Genomic Incidental Findings , 2013, Science.

[90]  Susan M Wolf,et al.  Patient Autonomy and Incidental Findings in Clinical Genomics , 2013, Science.

[91]  S. Fullerton,et al.  Return of incidental findings in genomic medicine: measuring what patients value—development of an instrument to measure preferences for information from next-generation testing (IMPRINT) , 2013, Genetics in Medicine.

[92]  Elizabeth M Webber,et al.  Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies , 2013, Genetics in Medicine.

[93]  Leslie G Biesecker,et al.  Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study , 2012, European Journal of Human Genetics.

[94]  Ellen Wright Clayton,et al.  Managing incidental genomic findings: legal obligations of clinicians , 2013, Genetics in Medicine.

[95]  H. Kearney,et al.  American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing , 2013, Genetics in Medicine.

[96]  Dan M. Roden,et al.  Implementing genomic medicine in the clinic: the future is here , 2013, Genetics in Medicine.

[97]  James P Evans,et al.  An informatics approach to analyzing the incidentalome , 2012, Genetics in Medicine.

[98]  Acmg PrACtiCe Incidental findings in clinical genomics: a clarification , 2013, Genetics in Medicine.

[99]  Haley R. Eidem,et al.  Effects of informed consent for individual genome sequencing on relevant knowledge , 2012, Clinical genetics.

[100]  Robert C. Green,et al.  Exploring concordance and discordance for return of incidental findings from clinical sequencing , 2012, Genetics in Medicine.

[101]  Eric D. Green,et al.  VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer , 2012, Bioinform..

[102]  M. McCarthy,et al.  Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. , 2012, The Journal of clinical investigation.

[103]  Leslie G. Biesecker,et al.  Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria , 2011, Nature genetics.

[104]  Muin J Khoury,et al.  Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time , 2011, Genetics in Medicine.

[105]  C. Chute,et al.  Electronic Medical Records for Genetic Research: Results of the eMERGE Consortium , 2011, Science Translational Medicine.

[106]  W. Burke,et al.  Comprar Achieving Justice in Genomic Translation Re-Thinking the Pathway to Benefit | Susan Brown Trinidad | 9780195390384 | Oxford University Press , 2011 .

[107]  W. Burke,et al.  Achieving Justice in Genomic Translation: Re-Thinking the Pathway to Benefit , 2011 .

[108]  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.

[109]  Rasmussen Kl Electronic medical records , 2006 .