Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

[1]  The eMERGE Clinical Annotation Working Group Frequency of genomic secondary findings among 21,915 eMERGE network participants , 2020 .

[2]  Magalie S Leduc,et al.  Frequency of genomic incidental findings among 21,915 eMERGE network participants , 2020, Genetics in Medicine.

[3]  Jason Y. Park,et al.  Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy , 2020, JAMA network open.

[4]  Danielle R Azzariti,et al.  Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties , 2019, Genetics in Medicine.

[5]  H. Rehm,et al.  Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar , 2019, Genome Medicine.

[6]  J. Denny,et al.  The "All of Us" Research Program. , 2019, The New England journal of medicine.

[7]  Ying Wang,et al.  ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. , 2019, Blood advances.

[8]  Robert C. Green,et al.  Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. , 2019, American journal of human genetics.

[9]  A. Philippakis,et al.  The "All of Us" Research Program. , 2019, The New England journal of medicine.

[10]  Lea M. Starita,et al.  Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework , 2019, Genome Medicine.

[11]  Paul A. Harris,et al.  The REDCap consortium: Building an international community of software platform partners , 2019, J. Biomed. Informatics.

[12]  Danielle R Azzariti,et al.  A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement , 2019, Genetics in Medicine.

[13]  Leslie G Biesecker,et al.  The ACMG/AMP reputable source criteria for the interpretation of sequence variants , 2018, Genetics in Medicine.

[14]  Heidi L. Rehm,et al.  Harmonizing Clinical Sequencing And Interpretation For The Emerge III Network , 2018, bioRxiv.

[15]  Heidi L Rehm,et al.  Updated recommendation for the benign stand‐alone ACMG/AMP criterion , 2018, Human mutation.

[16]  Robert Huether,et al.  Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel , 2018, Human mutation.

[17]  Soma Das,et al.  Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach , 2018, Human mutation.

[18]  Karen Eilbeck,et al.  Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene , 2018, Human mutation.

[19]  Carla Oliveira,et al.  Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants , 2018, Human mutation.

[20]  Birgit Funke,et al.  ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation , 2018, Human mutation.

[21]  Marina T. DiStefano,et al.  Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion , 2018, Human mutation.

[22]  E. Ashley,et al.  Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy , 2018, Genome Medicine.

[23]  Alex Chapin,et al.  Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss , 2018, bioRxiv.

[24]  Colleen Caleshu,et al.  Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience , 2017, Genetics in Medicine.

[25]  Bruce D. Gelb,et al.  ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation , 2018, Genetics in Medicine.

[26]  R. Nussbaum,et al.  Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework , 2018, Genetics in Medicine.

[27]  Birgit Funke,et al.  Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel , 2018, Genetics in Medicine.

[28]  B. Koenig,et al.  Understanding variations in secondary findings reporting practices across U.S. genome sequencing laboratories , 2018, AJOB empirical bioethics.

[29]  E. Ashley,et al.  Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation , 2017, Circulation: Cardiovascular Genetics.

[30]  Matthew S. Lebo,et al.  A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort , 2017, bioRxiv.

[31]  H. Rehm A new era in the interpretation of human genomic variation , 2017, Genetics in Medicine.

[32]  Keith Nykamp,et al.  Sources of discordance among germ-line variant classifications in ClinVar , 2017, Genetics in Medicine.

[33]  Keith Nykamp,et al.  Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria , 2017, Genetics in Medicine.

[34]  David Haussler,et al.  Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories , 2017, JCO precision oncology.

[35]  Daniel R Elgort,et al.  Variability in diagnostic error rates of 10 MRI centers performing lumbar spine MRI examinations on the same patient within a 3-week period. , 2017, The spine journal : official journal of the North American Spine Society.

[36]  Soma Das,et al.  Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar , 2017, Genetics in Medicine.

[37]  W. Chung,et al.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.

[38]  Madhuri Hegde,et al.  Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine. , 2016, American journal of human genetics.

[39]  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.

[40]  G. Jarvik,et al.  Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants. , 2016, American journal of human genetics.

[41]  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.

[42]  Sarah M. Hartz,et al.  Identification of Medically Actionable Secondary Findings in the 1000 Genomes , 2015, PloS one.

[43]  J. Elmore,et al.  Diagnostic concordance among pathologists interpreting breast biopsy specimens. , 2015, JAMA.

[44]  H. Rehm,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.

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

[46]  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.

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

[48]  David E Frost,et al.  All of us. , 2011, Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.