47th American Cytogenomics Conference Hilton Head Island, SC May 15-18, 2022
Sunday, May 15
| 11:00-4:00 PM | Exhibits registration | Santee Ballroom Foyer |
| 11:00-4:00 PM | Exhibit set-up | Santee Ballroom A-D (exhibits to be open during opening reception, all breakfasts, and all breaks) |
| 12:00-4:00 PM | CAP Inspector Training Session | Santee Ballroom E-H |
| 2:30-4:30 PM | Thermo Fisher Scientific Meeting | Savannah Junior Ballroom |
| 3:00-7:00 PM | Conference registration | Santee Ballroom Foyer |
| 5:00 -7:00 PM | Opening reception | Exhibit Hall, Santee Ballroom A-D |
Monday, May 16
| 7:00-8:00 AM | Continental breakfast | Exhibit Hall, Santee Ballroom A-D |
| 8:00-8:15 AM | Welcome and announcements Barb DuPont, 2020-2022 ACC President Robert Best, 2022 Program Chair Ross Rowsey, 2022 Program Vice-Chair | Santee Ballroom E-H |
| 8:15-10:00 AM | Scientific Session: Cancer Abstracts | Moderators: Gordana Raca and Anica Wandler |
| 8:15-8:30 AM | Clinical Utility of Low-Pass Whole Genome Sequencing (LP-WGS) and Targeted Panel Sequencing in Liquid Biopsies for Disease Diagnosis and Monitoring of Patients with Pediatric Solid Tumors | Jaclyn A Biegel, Katrina O'Halloran, Peter Chiarelli, Mark Krieger, Liya Xu, Jesse L Berry, Fariba Navid, Anya Zdanowicz, Leo Mascarenhas, James Amatruda, Dejerianne Ostrow, Moiz Bootwalla, Xiaowu Gai, Venkata Yellapantula, Eirini Christodoulou |
| 8:30-8:45 AM | Analytical Tools to Support Detection of Homologous Recombination Deficiency (HRD) Using Cytogenomic Scar Markers | Daniel Saul, Megan Roytman, Westley Sherman, Lily Nasanovsky, Soheil Shams |
| 8:45-9:00 AM | Complex and Cryptic EWSR1-FLI1 Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas | Ying S. Zou |
| 9:00-10:00 AM | Invited speaker – Christina Lockwood Challenges and Emerging Opportunities for Circulating Tumor DNA Testing in Clinical Laboratories | Introduction by Catherine Rehder |
| 10:00-10:30 AM | Break (all exhibits available for viewing) | |
| 10:30-12:00 PM | Scientific Session: OGM Abstracts | Moderators: Jackie Biegel and Tim Fee |
| 10:30-10:45 AM | Comparative Benchmarking of Optical Genome Mapping to Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and additional Structural Variant Refinement | Andy Wing Chun Pang, Hayk Barseghyan, Alka Chaubey, Alex Hastie |
| 10:45-11:00 AM | Optical Genome Mapping as a Potential Tier1 Test for Postnatal Chromosomal Disorders – Results of Multi-Institutional Validation Study of 331 Retrospective Clinical Samples | M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe |
| 11:00-11:15 AM | Optical GENOME MAPPING for Prenatal Diagnostic Testing | Nikhil Sahajpal*, Ashis K Mondal, Timothy Fee, Alex Hastie, Alka Chaubey, Barbara R DuPont, Ravindra Kolhe *Student award recipient |
| 11:15-11:30 AM | Optical Genome Mapping Analysis of FMR1 Expansions in Fragile X Syndrome | Hayk Barseghyan, Martin Muggli, Bahar Ramandi, Neil Miller, Dong Zhang, Ernest T Lam, Jian Wang, Tom Wang, Joyce Lee, Andy WC Pang, Henry B Sadowski, Alex R Hastie, Mark Oldakowski |
| 11:30-11:45 AM | Optical Genome Mapping Workflow for Identification and Annotation of Variants in Hematological Malignancy | Benjamin Clifford, Jen Hauenstain, Andy Wing Chun Pang, Alka Chaubey, Alex R. Hastie |
| 11:45-12:00 PM | Capture-Based Transcriptome Sequencing (RNA-Seq) and Optical Genome Mapping (OGM) Enhance Detection of Newly Described Molecular Subtypes of Pediatric B-lymphoblastic Leukemia (B-ALL) | Gordana Raca, Alexandra E. Kovach, Andrew Doan, Dejerianne Ostrow, Venkata Yellapantula, Jianling Ji, Ryan Schmidt, Jaclyn A. Biegel, Deepa Bhojwani |
| 12:00-12:30 PM | Genome level vendor presentation - Bionano: Finding More Answers: Integrating NGS and OGM for a Comprehensive Analysis of the Genome, Alex Hastie | Santee Ballroom E-H |
| 12:30-1:45 PM | Lunch and concurrent Chromosome level vendor presentations | |
| 12:45-1:05 PM | Chromosome level vendor presentation - Illumina: GDA-Cyto: Infinium Arrays Propel Cytogenomics Laboratories to New Heights, Jackie Hagan | Santee Ballroom E-H |
| 1:10-1:30 PM | Chromosome level vendor presentation - Metasystems: Intelligent Karyotyping, Yassmine Akkari | Santee Ballroom E-H |
| 12:45-1:05 PM | Chromosome level vendor presentation - PerkinElmer Genomics: The Power of Uniform Coverage by Genome Sequencing – Why genome sequencing is superior for Copy Number Variant Detection, Fen Guo | Savannah Junior Ballroom |
| 1:10-1:30 PM | Chromosome level vendor presentation - Oxford Gene Technology: Technical and Practical Considerations of validating an NGS Panel for CLL as an LDT, Graeme Quest and Peter Sabatini | Savannah Junior Ballroom |
| 1:45-2:45 PM | Talkowski-Tommerup Joint Abstracts • Structural Variation Discovery and Interpretation in the Era of Cytogenomics • The Landscape of Structural Variation Discovery and Interpretation Across Global Populations and the Developmental Continuum • Remember Breakpoint Two: Enhancer Swapping, A Frequent Deleterious Consequence of Balanced Chromosomal Rearrangements | Introduction by Peter Jacky |
| 2:45-3:15 PM | Scientific Session: Congenital Cases | Moderators: Colleen Jackson-Cook and Theresa Brown |
| 2:45-3:00 PM | Four-way Translocation in a Patient with Mild Clitoromegaly | Virginia Thurston, Barbara DuPont, Laurie Demmer, Holli Drendel |
| 3:00-3:15 PM | Clinical Validation of Non-Invasive Prenatal Screening Using Synthetic Plasmas | Zhongxia Qi, Jingwei Yu |
| 3:15-3:45 PM | Break (all exhibits available for viewing) | |
| 3:45-5:15 PM | Scientific Session: Congenital Abstracts | Moderators: Ben Hilton and Cherisse Marcou |
| 3:45-4:00 PM | Uniparental Disomy (UPD) of Multiple Chromosomes in Two Cases with a Complex Phenotype | Katarzyna Polonis, Jaime L. Lopes, Huong Cabral, Linda Hasadsri, Ross A. Rowsey, Nicole L. Hoppman |
| 4:00-4:15 PM | Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations | Xiaolan Fang, Benjamin Hilton, Barbara DuPont |
| 4:15-4:30 PM | Trisomy 18p Detected in DNA From Saliva But Absent in DNA From Blood | Timothy Fee, Michael Lyons, Benjamin Hilton, Barbara DuPont |
| 4:30-4:45 PM | Phase Determination and Demonstration of Parental Mosaicism of Intragenic PRKN Deletions Initially Identified by Chromosomal Microarray Analysis | Lauren A. Choate*, Francis Hoffman, Jessica Newman, Cassandra Runke, Matthew Webley, Nicole Hoppman, Erik Thorland *Student award recipient |
| 4:45-5:00 PM | Paternal UPD14 and sSMC Derived from Chromosome 14: A Case Report | Jiyong Wang, Angie Lichty, Jill Johnson, Chandler Couick, Mary Alice Moore, Beth Christensen, Khirston Howard, Jennifer A. Lee, Barbara DuPont, Lola B. Clarkson, Benjamin A. Hilton |
| 5:00-5:15 PM | A Case of Supernumerary Ring Chromosome 20 Involving the Gene ASXL1 Resulting in Brain Abnormalities | Benjamin Hilton, Barbara DuPont, Kameryn Butler |
| 5:15 PM | Wrap up, bingo prize, announcements about award dinner | Bob Best and Barb DuPont |
| 5:15-6:30 PM | Pre-dinner break | |
| 6:30-7:00 PM | Reception | Santee Ballroom Foyer |
| 7:00 PM | Distinguished Cytogeneticist Dinner: Recipient - Cynthia Casson Morton | Santee Ballroom E-H |
Tuesday, May 17
| 7:00-8:00 AM | Continental breakfast | Santee Ballroom A-D Bob Best |
| 8:00-10:15 AM | Scientific Session: Cancer Abstracts | Moderators: Angela Lager and Hossein Hosseini |
| 8:00-8:15 AM | Reducing Diagnostic FISH Turn-Around-Time: A Rapid Pipeline for BCR::ABL1 and PML::RARA Suspected Leukemias | Angela M Lager, Nifang Niu, Rachel Sears |
| 8:15-8:30 AM | Clinical and Diagnostic Challenges of Atypical Findings during Fluorescence in situ Hybridization (FISH) Testing: CBFB break-apart FISH as an example | Zhenya Tang, Gokce A Toruner, Guilin Tang |
| 8:30-8:45 AM | Donor-Derived Acute Myeloid Leukemia in a Recipient of Liver-Transplantation | Lori Koslosky, Taylor Zak, Medina Sukhanova, Yasmin Abaza, Jessica Altman, Alok Pant, Xinyan Lu |
| 8:45-9:00 AM | Novel Translocation t(5;19)(q35;p13.3) in a Patient with T-Cell Large Granular Lymphocytic Leukemia: Report of a Rare Case | Hossein Hosseini, Hinesh K Patel, Aleyamma Thomas, Masayo Niwa-Habibi, Grace Charcos, Lynne Karp, Nayyara Mahmood, Jeffery Tefft, Ahmed Bendari, Judith P Brody, Anu G Chandok, Ninette Cohen, Ram Singh |
| 9:00-9:15 AM | An ATIC::ALK fusion Created by Balanced Insertion Rather than Inversion of Chromosome 2 in an ALK+ Anaplastic Large Cell Lymphoma | Chen Yang, Amer Heider, Noah Brown, Bryan Betz, Lina Shao |
| 9:15-9:30 AM | Deregulation and Shattering of Chromosomal Segments Containing Multiple Oncogenic Targets in the Pathogenesis of Diffuse large B cell Lymphoma (DLBCL) | Ashwini Yenamandra, Amibeth Gardner, Yingda Wang, Debra Friedman, Emily Mason |
| 9:30-10:00 AM | Genome Vendor: Thermo Fisher Scientific - Detection of Sex Chromosomal Abnormalities Using SNP-array | Sibel Kantarci, Quest Diagnostics, introduction by Yassmine Akkari and Brynn Levy |
| 10:00-10:10 AM | ACC Service award presentation Recipient: Debra Saxe | Presented by Jackie Biegel and Art Brothman (by video) |
| 10:10-10:30 AM | Break (all exhibits available for viewing) | |
| 10:30-11:30 PM | Invited Speaker - Jeanne Lawrence Trisomy 21 Silencing in Hematopoietic and Neural Cells: New Insights and Prospects | Introduction by Anne Higgins |
| 11:30-12:00 PM | Scientific Session: Methylation Abstracts | Moderators: Gail Wenger and Matt Tedder |
| 11:30-11:45 AM | Increased Micronuclei Frequency and DNA Methylation Patterns Associated with Down Syndrome Regression Disorder | Kelly A. Rafferty*, Dana Lapato, Kristi Turner, Brian G. Skotko, Amy Torres, Stephanie L. Santoro, Nicolas Oreskovic, Kelsey Haugen, Kavita Krell, Ruth Brown, Colleen Jackson-Cook *Student award recipient |
| 11:45-12:00 PM | The Application of DNA Methylation Epi-signatures to Resolve Variants of Uncertain Clinical Significance | Matthew L. Tedder, Barbara R. DuPont, Jennifer A. Lee, Raymond J. Louie, Jennifer Kerkhof, Bekim Sadikovic, Michael J. Friez |
| 12:00 PM | Wrap up, bingo prize, announcements about social events | Bob Best and Barb DuPont |
| 6:00-10:00 PM | Buffet dinner and dancing | Sonesta Oceanfront Beach Pavilion |
Wednesday, May 18
| 7:30-8:30 AM | Continental breakfast | Santee Ballroom A-D Bob Best |
| 8:30-9:25 AM | Informal Discussion on Laboratory Workforce Needs – Open Session | Conveners: Yassmine Akkari and Bob Best |
| 9:30-10:30 AM | Scientific Session: Sex Chromosome/DSD Abstracts | Moderators: Denise Quigley and Makenzie Fulmer |
| 9:30-9:45 AM | Rare familial Rearrangement with Acrocentric Satellite Material on Yp Relocating to Xp in a Female Fetus | Anica M. Wandler, Aparna Murali, Thalia C. Mok, P. Nagesh Rao, Yalda Afshar, Sung-Hae L. Kang |
| 9:45-10:00 AM | Genetic Testing for Individuals with Non-syndromic Differences in Sex Development (DSD): Collaborative Approach Yields Results | Cate Randall Paschal, Candace T Myers, Madelyn Gillentine, Darci L Sternen, Audrey Squire, Patricia Fechner, Anne-Marie Amies Oelschlager, Margarett Shnorhavorian, Margaret Adam |
| 10:00-10:15 AM | Variability in Sex and Phenotype: Impact of a Familial Pathogenic DHX37 Variant Leading to 46,XY Gonadal Dysgenesis | Ferrin Wheeler, Emily Solem, Laura Duncan, Cassandra Brady |
| 10:15-10:30 AM | A Rare Case of 46,XX/46,XXY Mosaic Klinefelter Syndrome in an Infant | Tiffany Guess, Ferrin Wheeler |
| 10:30-11:00 AM | Break (all exhibits available for viewing) | |
| 11:00-12:00 PM | Invited speaker – Charles Lee Toward understanding the structure and function of the mammalian genome | Introduction by Sue Kang |
| 12:00- 12:30 PM | Program wrap up, final bingo prize, student award winners, ACC business meeting, ACC 2024 Jen Winters | Bob Best and Barb DuPont, Ben Hilton and Makenzie Fulmer |