Posters & Presentations
| Title | Authors | Location | Year | Type |
|---|---|---|---|---|
| Making sense of missense: a pathway-based approach to functional assays for improved clinical variant interpretation | Brnich SE, Brandt, A, Berg JS |
ACMG Annual Clinical Genetics Meeting |
2019 | Platform Presentation |
| An In Silico Assessment of Functional Assay Impact on Clinical Variant Interpretation | S.E. Brnich, E.A. Rivera-Munoz, J.S.Berg | UNC MC-PhD Annual Retreat | 2018 | Poster |
| Evaluation of Targeted Sequencing Technology to Screen 17 Genes for Actionable Conditions in Healthy Individuals | Alicia Brandt, Edgar A. Rivera-Munoz, Lonna Mollison, Chelsea Gustafson, Daniela DeCristo, Falecia Metcalf, James Evans, Gail Henderson, Jonathan S. Berg | ACMG | 2018 | Poster |
| Development of a Targeted Second-Tier Genetic Test for Conditions Examined during Newborn Screening | Lonna Mollison, Chelsea Gustafson, Edgar A. Rivera-Munoz, Alicia Brandt, Daniela DeCristo, Falecia Metcalf, Cynthia Powell, Jonathan Berg | ACMG | 2018 | Poster |
| Restricted repertoire of ACMG variant interpretation criteria apply in screening | Daniela M. DeCristo, Edgar A. Rivera-Munoz, Monica Zeynalzadeh, Jonathan Berg | ACMG | 2018 | Poster |
| Dilemmas in defining pediatric actionability: preserving an open future when the genome is an open book | 1Kathleen Wallace, 1Stephanie Crowley, 1Daniela DeCristo, 1Ann Katherine Foreman, 1Laura Milko, 1Lonna Mollison, 1Julianne O’Daniel, 1Bradford Powell, 1,2Cynthia Powell, 1Jonathan Berg | ACMG | 2018 | Poster |
| Generation of Pathogenic and Benign BRCA2 Variants by Site-Directed Mutagenesis | Ellington MG, Brnich S, Berg JS. | UNC BIOL395 Research Symposium | 2018 | Poster |
| Theoretical and practical considerations for validation of functional assays in clinical variant interpretation applications. | Brnich SE, Sekelsky JJ, Berg JS. | American Society of Human Genetics (ASHG) 2018 Annual Meeting | 2018 | Poster |
| A Pathogenicity Calculator Assessment of Functional Assay Impact on Clinical Variant Interpretation. | S.E. Brnich, E.A. Rivera-Munoz, J.S.Berg | ACMG Annual Clinical Genetics Meeting | 2018 | Poster |
| Clinical interventions to delay or prevent outcomes related to inherited conditions: Does expert opinions on the nature of intervention reflect the opinions of the general population? | Goddard K, Paquin R, Mittendorf K, Lewis M, Zulkiewicz B, Leo M, Nyongesa D, Hunter J, Lee K, Williams M, Berg | Curating the Clinical Genome 2018 Conference | 2018 | Presentation |
| ClinGen’s Pediatric Actionability Working Group | Hunter JE, Webber EM, Mittendorf K, Lee K, Williams MS, Powell BC, Goddard KAB | Curating the Clinical Genome 2018 Conference | 2018 | Poster Presentation |
| Somatic Variant Data Integration in ACMG Classification of Germline Variants in Hereditary Cancers | Ritter DI, Kesserwan C, Sonkin D, Chakravarity D, Chao E, Ghosh R, Lee K, Kulkarni S, Zhang L, Offit K, Plon SE, Walsh MF | Curating the Clinical Genome 2018 Conference | 2018 | Poster presentation |
| Clinical Validity Assessment of Genes Frequently Tested on Hereditary Breast and Ovarian Cancer Susceptibility Sequencing Panels | Lee K, Seifert BA, Shimelis H, Ghosh R, Carter NJ, Crowley SB, Doonanco K, Foreman AK, Ritter DI, Trapp M, Berg JS, Plon SE, Couch FJ | ACMG | 2018 | Poster Presentation |
| Somatic Variant Data Integration in ACMG Classification of Germline Variants in Hereditary Cancers | Ritter DI, Kesserwan C, Sonkin D, Chakravarity D, Chao E, Ghosh R, Lee K, Kulkarni S, Zhang L, Offit K, Plon SE, Walsh MF | ACMG | 2018 | Poster Presentation |
| Clinician versus general population perceptions of the nature of clinical interventions for delaying or preventing outcomes related to inherited conditions | Mittendorf KF, Paquin RS, Lewis M, Zulkiewicz B, Hunter JE, Lee K, Berg JS, Williams MC, Goddard KAB | ACMG | 2018 | Poster Presentation |
| Going beyond the ACMG recommendations for reporting secondary findings: from decision-making to follow-up | Strande, NT, Booker J, Foreman AK, Haskell GT, Lee K, O’Daniel JM, Powell BC, Roche M, Seifert BA, Evans JP, Weck KE, Berg JS | ASHG | 2017 | Poster Presentation |
| Factor 8 assay discrepancy in a United States non-severe hemophilia A cohort | Okoye HC, Nielsen BI, Lee K, Key NS, Rollins-Raval MA | International Society on Thrombosis and Haemostasis | 2017 | Poster Presentation |
| Validity Assessment of Genes Commonly Found on Clinically Available Hereditary Breast and Ovarian Cancer Susceptibility Sequencing Panels | Lee K, Seifert B, Shimelis H, Ghosh R, Carter NJ, Crowley S, Doonanco K, Berg JS, Plon SE, Couch FJ | Curating the Clinical Genome Conference | 2017 | Poster Presentation |
| Developing optimized ACMG-AMP criteria for classification of germline variants in TP53 | Pesaran T, Achatz MI, Attardi L, Bassett R, Bissonnette J, Evans G, Feng B, Fortuno C, Frone M, Goldgar D, Huether R, James P, Jimenez S, Kesserwan C, Lee K, Li S, Mai P, McGoldrick K, Mester J, Olivier M, Plon S, Slavin T, Spurdle A, Zhang L, Savage S | Curating the Clinical Genome Conference | 2017 | Poster Presentation |
| Assessing the Clinical Validity of Genes Implicated in Hereditary Colorectal Cancer and Polyposis Using the ClinGen Framework. | Seifert BA, Jackson S, McGlaughon J, Ritter D, Roberson A, Roberts M, Schmidt RJ, Thompson B, Jimenez S, Lee K, Plon SE, Offit K, Berg JS, Greenblatt MS, Stadler ZK, Zhang L, Ferber MJ. | Curating the Clinical Genome Conference | 2017 | Poster Presentation |
| Optimization of the ACMG-AMP
Criteria for CDH1 Variant Classification. |
Karam R, Schrader I, Lee K, Oliveira C, Roberts M, Nykamp K, Pesaran T, Ghosh R, Figueiredo J, Kobayashi Y, Kaurah P, Krempely K, Slavin TP, Zhang L, Chao E, Spurdle A, Tavtigian S, Carneiro F, Huntsman D, Plon SE | Curating the Clinical Genome Conference | 2017 | Poster Presentation |
| Beyond the ACMG 59: Identification of Clinically Actionability Secondary Findings by the ClinGen Actionability Working Group | Webber EM, Hunter JE, Lee K, Muessig KR, Biesecker LG, Buchanan AH, Lindor N, Martin CL, O’Daniel JM, Ramos EM, Slavotinek A, Sobreira N, Weaver M, Williams MS, Evans JP, Goddard KA | Curating the Clinical Genome Conference | 2017 | Poster Presentation |
| The who, what and why of research participants’ intentions to request a broad range of secondary findings in a clinical diagnostic genomic sequencing study. | Rini C, Khan C, Moore E, Roche M, Evans, JP, Berg JS, Powell BC, Foreman AKM, Griesemer I, Lee K, O’Daniel J, Henderson G | The 4th ELSI Congress | 2017 | Poster Presentation |
| . Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future. | Milko LV, Funke BH, Hershberger R, Lee K, Rivera-Munoz EA, Weaver MA, Niehaus A, Azzariti DR, Riggs E, Craigen W, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos E, Plon SE, Berg J | ACMG | 2017 | Poster Presentation |
| Assessing the Clinical Validity of Genes Implicated in Hereditary Colorectal Cancer and Polyposis Using the ClinGen Framework | Seifert B, Jackson S, McGlaughon J, Ritter D, Roberts M, Schmidt RJ, Jimenez S, Lee K, Plon SE, Offit K, Berg JS, Stadler ZK, Zhang L, Ferber M | ACMG | 2017 | Poster Presentation |
| Clarity in the face of uncertainty: a nuanced classification of uncertain exome cases | Strande N, Booker J, Foreman AKM, Haskell G, Lee K, O’Daniel J, Powell B, Seifert B, Evans JP, Berg JS, Weck KE | ACMG | 2017 | Poster Presentation |
| Integrating Somatic Variant Data to Aid in Classification of Germline Variants in Hereditary Cancer Genes using the ACMG/AMP Guidelines | Walsh MF, Ritter D, Ghosh R, Kesserwan C, Hedges D, Chao E, Chakravarity D, Kulkarni S, Drazer M, Jimenez S, Kemel Y, Lee K, Zhang L, Plon SE | ACMG | 2017 | Poster Presentation |
| Secondary and Incidental Findings from WES/WGS | Hunter JE, Webber EM, Lee K, Muessig KR, Biesecker LG, Buchanan AH, Lindor N, Martin CL, O’Daniel JM, Ramos EM, Slovotinek A, Sobreira N, Weaver MA, Williams MS, Evans JP, Goddard KAB | ASHG | 2017 | Presentation |
| Examining the role of functional assays in clinical variant interpretation. | Brnich SE, Berg JS. | UNC MSTP Monday Night Seminar Series | 2017 | Oral Presentation |
| Defining the pediatric actionability of genetic conditions for utility in newborn screening | Kathleen Wallace, Stephanie Crowley, Daniela DeCristo, Kate Foreman, Laura Milko, Lonna Mollison, Julianne O’Daniel, Bradford Powell, Cynthia Powell, Jonathan Berg. | CCG | 2017 | Poster |
| High-throughput functional characterization of variants in DNA repair genes in cancer | Sarah Brnich, Stephanie Bellendir, Bryce Seifert, Alicia Brandt, Andy Rivera, Jonathan Berg | 4th Annual Advocated For Women in Science and Medicine Symposium | 2017 | Poster |
| Stop, go, slow: pathogenic, nonpathogenic, still don’t know (A traffic light reporter assay for clinical interpretation of variants) | Sarah Brnich, Stephanie Bellendir Crowley, Bryce Seifert, Alicia Brandt, Andy Rivera, Jonathan Berg | UNC Department of Genetics Annual Retreat | 2017 | Poster |
| Paving the Way to Evidence-based Medical Genomics | Kristy Lee | UNC Department of Genetics Annual Retreat | 2017 | Presentation |
| Genome-scale Sequencing in Families and Individuals with Gastrointestinal Polyposis to Identify Potentially Pathogenic Variants in Candidate Polyposis Genes | Seifert BA, Lee K, Milko L, Evans JP, Berg JS | AMP | 2016 | Poster Presentation |
| Beware of spurious findings: Challenges with variant interpretation in retinal conditions exhibiting extreme genetic heterogeneity | Lee K, Adams MC, Berg JS | Curating the Clinical Genome Conference | 2016 | Poster Presentation |
| Systematic assessment of variant classification for gene on hereditary cancer panels. | Rivera-Munoz EA, Lee K, Ghosh R, Offit K, Plon SE | ACMG | 2016 | Poster Presentation |
| The road not taken: Exome “Results” that were not returned. | Strande NT, Haskell G, Booker JK, Foreman AKM, Lee K, O’Daniel JM, Powell BC, Seifert BA, Weck KE, Evans JP, Berg JS | ACMG | 2016 | Poster Presentation |
| A Tell Tale Gene: Defining the Clinical Validity of Genes Associated with Hypertrophic Cardiomyopathy | Kathleen Wallace, Colleen Caleshu, Edward W. Corty, Stephanie Crowley, Kristen Dougherty, Jodie Ingle Ingles, Laura Milko, Ana Morales, Bryce A. Seifert, Jan D.H. Jongbloed, CHris Semsarian, Natasha T. Strande, Peter van Tintelen, Ray Hershberger, James Ware, Birgit Funke, Jonathan Berg on behalf of the ClinGen Cardiovascular Clinical Domain WG | UNC Genetics Department Retreat | 2016 | Poster |
| Listening to the genetic data: a comparative analysis of diagnostic and newborn screening panels for hearing loss | DeCristo D, Crowley S, Wallace K, Girnary Z, Aylsworth AS, Booker J, Boshe L, Couser N, Foreman K, Frazier D, Gucsavas-Calikoglu M, Milko L, O’Daniel J, Powell B, Roche M, Strande N, VOra N, Powell C, Berg J | 2016 | Poster | |
| Systematic Assessment of Variant Classification for Genes on hereditary cancer panels | Edgar A. Rivera-Munoz, Kristy Lee, Rajarshi Ghosh, Kenneth Offit, Sharon E. Plon | ACMG | 2016 | Poster |
| High-throughput functional characterization of variants in DNA repair genes in cancer | Stephanie Bellendir, Natasha Strande, Bryce Seifert, Sarah Brnich, Jonathan Berg | UNC Department of Genetics Annual Retreat | 2016 | Poster |
| Evolution of newborn screening: Molecular Inversion Probes Targeting Recommended Uniform Screening Panel Genes | Alicia Brandt, Chelsea Gustafson, Ruhi Rai, Kirk Wilhelmsen, Jonathan Berg | WinS (Women in Science Symposium) | 2016 | Poster |
| Traditional diagnostic testing vs. Whole Exome Sequencing in evaluation of Neuromuscular Disorders | Michael Adams, Krunal Amin, Gloria Haskell, Zheng Fan, Jonathan S. Berg | ACMG | 2016 | |
| The Road Not Taken: Exome “Results” That Were Not Returned | Strande NT, Haskell GT, Booker JK, et al. | ACMG | 2016 | Poster |
| Assessing the Clinical Validity of Genes Implicated in Hereditary Breast and Ovarian Cancer Susceptibility Using the ClinGen Framework | Seifert BA, Lee K, Shimelis H, Ghosh R, et al. | ACMG | 2016 | Presentation |
| Systematic Assessment of Variant Classification for Genes on Hereditary Cancer Panels | Rivera Munoz EA, Lee K, Ghosh R, Offit K, Plon S. | ACMG | 2016 | Poster |
| Weight and see: A systematic overview of category rankings within the semi-quantitative metric of the NCNEXUS project | Girnary Z, Milko L, Strande N, et al | ACMG | 2016 | Poster |
| ClinGen and ClinVar: Essentials for your Variant Interpretation Toolbox | Kristy Lee | NCMGA | 2016 | Presentation |
| Understanding the Genetics of Bleeding Disorders & Family Implications | Kristy Lee | Annual Hemophilia of North Carolina | 2016 | Presentation |
| Sorting Through Variants Related to Phenotypes Associated with Extreme Genetic Heterogeneity | Kristy Lee | ACMG | 2016 | Presentation |
| Systematic assessment of clinical actionability of genetic disorders associated with genomic variation by the ClinGen Actionability Working Group: the ACMG 56 and beyond | Hunter JE, Biesecker LG, Bigler K, Buchanan A, Irving SA, Jensen B, Lee K, Martin CL, Milko L, Niehaus AD, O’Daniel JM, Piper MA, Ramos EM, Schully SD, Slavotinek A, Sobreira N, Strande NT, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA | Curating the Clinical Genome Conference | 2016 | Presentation |
| Assessing the clinical validity of gene implicated in hereditary breast and ovarian cancer susceptibility using the ClinGen framework | Seifert BA, Lee K, Shimelis H, Ghosh R, Lauer E, Strande NT, Ceyhan-Birsoy Q, Berg JS, Plon SE, Couch FJ | ACMG | 2016 | Presentation |
| ClinGen Actionability Working Group: Clinical Actionability in the context of Secondary Findings in Adults and Application to the ACMG 56. | Hunter JE, Biesecker LG, Bigler K, Buchanan A, Irving SA, Lee K, Martin CL, Milko L, Niehaus AD, Nussbaum R, O’Daniel JM, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande NT, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA | ASHG | 2015 | Poster Presentation |
| Opening the floodgates to get a sip of water: Challenges of whole exome sequencing analysis as a diagnostic tool. | Strande NT, Bizon C, Booker JK, Brandt A, Foreman AKM, King I, Lee K, Milko L, O’Daniel JM, Owen P, Powell BC, Seifert BA, Wilhelmsen KC, Berg JS, Weck KE | Association for Molecular Pathology Annual Meeting | 2015 | Poster Presentation |
| Secondary findings from genomic sequencing: What NCGENES participant say they want, what they request, and how they respond. | Roche MI, Raspberry K, Skinner D, Guargia S, Foreman AK, Lee K, O’Daniel J, Powell BC, Berg JS, Evans, JP, Henderson G | ACMG | 2015 | Poster Presentation |
| Research Sweep of Simplex breast cancer reveals TRP channel variants | Sarah Brnich, Gloria T. Haskell, Daniel Marchuk, Jonathan Berg | John B. Graham Medical Student Research Day | 2015 | Poster |
| Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings | Seifert BA, O’Daniel JM, Amin K, et al. | UNC Genetics Retreat | 2015 | Poster |
| A Categorical Framework to Aid Parental Decision-Making for Next-Generation, Newborn Sequencing Results | Girnary Z, Milko LV, Brandt A, et al | UNC Genetics Retreat | 2015 | Poster |
| Challenges of Whole Exome Sequencing Analysis as a Diagnostic Tool | Strande NT, Bizon C, Booker JK, et al. | AMP | 2015 | Poster |
| Genomic Screening of the General Population | Adams M, Evans JP, Henderson G, et al. | ACMG | 2015 | Poster |
| Long QT Genes- Which came first, Validity or Clinical Testing? | Boshe L, Strande N, Berg JS, and O’Daniel J | ACMG | 2015 | Poster |
| Clinical Evaluation of Germline Sequencing for Hereditary Cancer Risk Assesment | Amin K, Seifert B, and Berg JS | BIOL395 (Undergraduate Course) | 2015 | Poster |
| Genetic Testing for Retinal Conditions | Kristy Lee | Raleigh-Durham Chapter of Foundation Fighting Blindness | 2015 | Presentation |
| Challenges in Interpretation & Explanation of Exome Sequencing | Kristy Lee | Southeastern Regional Genetics Group | 2015 | Presentation |
| University of North Carolina at Chapel Hill Exome Case Conference | Kristy Lee | ACMG Case Conference Webinar Series | 2015 | Presentation |
| Clinical actionability of incidental findings: application of a semiquantitative metric to assess actionability in over 1200 genes | Foreman AKM, Booker J, Boshe L, Crooks K, Evans JP, Jensen BC, Lee K, Nelson DK, O’Daniel J, Powell BC, Roche M, Skrzynia C, Strande T, Weck KE, Wilhelmsen KC, Berg JS | ASHG | 2014 | Poster Presentation |
| Analysis of Whole Exome Datasets to Test the Hypothesis of Digenic Inheritance in Stargardt Disease | Lee K, Marchuk D, Friez MJ, Bizon C, Owen P, Weck KE, Garg S, Evans JP, Berg JS. | ASHG | 2014 | Poster Presentation |
| Investigating Whole Exome Sequencing as a Diagnostic Test for Hereditary Retinal Disorders | Lee K, Crooks K, Milko L, Lu M, Owen P, Weck KE, Evans JP, Berg JS, Garg S | ACMG | 2014 | Poster Presentation |
| Identifying Genetic Determinants of Mitral Valve Prolapse | Haskell GT, Marchuk D, Skrzynia C, et al. | ACMG | 2014 | Poster |
| Clinical Actionability of Incidental Findings: Application of a semiquantitative metric to assess actionability in over 1200 genes | Foreman AKM, Booker JK, Boshe L, et al. | ASHG | 2014 | Poster |
| Exploring the diagnostic yield of whole exome sequencing in a broad range of genetic conditions: The first 300 cases in the NCGENES study | Strande N | ASHG | 2014 | Presentation |
| The ClinGen framework for defining the clinical validity of monogenic disease associations for use in research and clinical analyses | Berg JS, Birsoy O, Butte AJ, et al. | ASHG | 2014 | Poster |
| Diagnostic and Research Utility of Whole Exome Sequencing for Cardiac Disease | Haskell GT, Jensen BC, Skrzynia C, et al. | ASHG | 2014 | Poster |
| Application of Whole Exome Datasets to Test the Hypothesis of Digenic Inheritance in Stargardt Disease | Lee K, Marchuk D, Friez MJ, et al. | ASHG | 2014 | Poster |
| Exploring the diagnostic yield of whole exome sequencing in a broad range of genetic conditions: the first 200 cases in the NCGENES study | Strande N, Bizon C, Booker J, Crooks K, Foreman AKM, Haskell G, Hayden M, Lee K, Lu M, Milko L, O’Daniel J, Owen P, Powell B, Skrzynia C, Tilley C, Treece A, Young D, Wilhelmsen K, Weck KE, Berg JS, Evans JP | ASHG | 2014 | Presentation |
| Unanticipated results in whole exome study: we’ve still a lot to learn. | Skrzynia C, O’Daniel JM, Marchuck D, Lee K, Berg JS, Evans JP | European Society of Human Genetics | 2014 | Presentation |
| Investigating Whole Exome Sequencing as a Diagnostic Test for Hereditary Retinal Disorders | Lee K, Crooks K, Milko L, et al. | ACMG | 2013 | Poster |
| Early Experiences with Genetic Counseling for Incidental Findings from Whole Exome Sequencing | Lee K, Crooks K, Milko L, et al. | NSGC | 2013 | Poster |
| An Informatics Pipeline for Identifying Clinically Relevant Incidental Variants in Whole Genome Sequences | Berg JS, Adams M, Nassar N, et al. | ACMG | 2012 | Poster |
| Whole Genome Analysis of High Risk Breast Cancer Families | Lee K, Matthew J, Bloom R, et al. | ACMG | 2011 | Poster |
| Whole Genomic Analysis of High Risk Cancer Families | Lee K, Berg JS, Sullivan PF, Evans JP | CGH | 2009 | Poster |