48th American Cytogenomics Conference Norfolk, VA June 2-5, 2024


Sunday, June 2

ACC Board meeting    noon-2pm

Opening reception      5pm – 7pm, exhibit hall

Monday, June 3

7:00-8:00 AMContinental breakfast
8:00-8:15 AMWelcome and Introductions
Jen Winters, 2022-2024 ACC President
Caroline Astbury, 2024 Program Committee Chair
Ross Rowsey, 2024 Program Committee Co-chair
8:15-10:00 AMSession 1Moderators: Colleen Jackson-Cook and Jessica Cooley Coleman
8:15-8:30 AMMulticenter evaluation of a new AI-based karyotyping software on bone marrow specimensRachel D. Burnside, Julie Best, Lisa Spudich, Amy Leftwich, Marbella Ospino, Ryan K. Olson, Jacob Diaz, Annette Mulka, Yanelys Guttierez, Heather Adams, Kenneth Greer, Julia Holmes, Christy Prongay, Lorraine Merant, Yael Glickman, Mohammad Kasom, Cristina Steele, Agshin F. Taghiyev, Lynne S. Rosenblum
8:30-8:45 AMArtificial intelligence-assisted conventional chromosome analysis to explore clonal dynamics in chronic lymphocytic leukemiaMatthew Avenarius, Samantha Teierle, Lucia Culley, Joie Olayiwola, Cecelia Miller
8:45-9:00 AMComparing and contrasting karyotype scoring guidelines for evaluating complex karyotype in chronic lymphocytic leukemiaCecelia R. Miller, Ying Huang, Adam S. Kittai, Seema A. Bhat, Kerry A. Rogers, Michael R. Grever, Jennifer A. Woyach, Matthew R. Avenarius
9:00-10:00 AMKeynote speaker: Dr. James Cook, MD, PhD
What your hematopathologists want to know: The role of cytogenomic data in the new classifications
Introduction by Caroline Astbury
10:00-10:30Break (all exhibits available for viewing)
10:30 AM-12:00 PMSession 2Moderators: Lee Kaplan and Andy (Qiliang) Ding
10:30-10:45 AMChromosome mosaicism: A new look at an old (and perplexing) problemStuart Schwartz, Alexandra Arreola, Gloria Haskell, Andrea Penton, Karen Phillips, Jim Tepperberg, Inder Gadi
10:45-11:00 AMRing chromosomes at the Greenwood Genetic Center - a case series spanning 27 years at a single institutionJessica A Cooley Coleman*
11:00-11:15 AMExon-level copy-number variants: The penultimate frontier in copy-number analysis?Timothy Fee, Benjamin Hilton, Barbara DuPont
11:15-11:30 AMThree cases illustrating genomic microarray testing in bone marrow failure syndromesLucilla Pizzo, Jian Zhao, Denise I. Quigley, M. Katharine Rudd, Akiko Shimamura, Sara Lewis, Marcin Wlodarski, Erica F. Andersen, Bo Hong
11:30-11:45 AMChromothripsis is a recurrent genomic event associated with high-risk and high grade meningiomasHa Nguyen
11:45 AM-12:00 PMNear haploidization is recurrent in central nervous system tumors, not exclusive to giant cell glioblastomasAiko Otsubo, Lina Shao
12:00-1:30 PMLunch and vendor presentations
12:15-12:35 PMChromosome Vendor: Bionano
Revolutionizing cytogenomics with optical genome mapping: high-resolution structural variant detection with an elevated sample-to-answer workflow
Michael Gallagher, PhD
12:40-1:00 PMChromosome Vendor: Empire Genomics
Frontiers of FISH Probes: Driving Genomic Discoveries
Norma Nowak, PhD
1:05-1:25 PMChromosome Vendor: IlluminaTimothy Fee, PhD
1:30-3:00 PMSession 3Moderators: Cecelia Miller and Saeideh Torabi Dalivandan
1:30-1:45 PMUntangling complex 15q rearrangements through long-read whole-genome sequencingCate R. Paschal, Miranda PG Zalusky, Jaya Narayanan, Beto Rea Labra, Madelyn A. Gillentine, Sophie Storz, Joy Goffena, Anita E. Beck, Danny E. Miller
1:45-2:00 PMTo remap or not to remap: the relevance of the genome references to resolve rare inversionsClaudia M.B. Carvalho, Kristine Bilgrav Saether, Jesse Bengtsson, Jesper Eisfeldt, Ming Yin Lun, Jakob Schuy, Medhat Mahmoud, Christopher M. Grochowski, Davut Pehlivan, Fritz J. Sedlazeck, Jill A. Rosenfeld, Pengfei Liu, Weimin Bi, Ronit Marom, Anna Lindstrand
2:00-2:15 PMEnhanced detection of primary oncogenic drivers in pediatric T-lymphoblastic leukemia (T-ALL) by optical genome mapping (OGM)Gordana Raca, Aleksandra E. Kovach, Karin Miller, Jennifer Han, Katherine Ma, Cindy Fong, Jianling Ji, Ryan Schmidt, Andrew Doan, Deepa Bhojwani
2:15-2:30 PMClinical utility of optical genome mapping as an additional tool to standard cytogenetic workup in hematological malignanciesGokce Toruner, Zhenya Tang, Guilin Tan
2:30-3:00 PMGenome level vendor presentation: ThermoFisherDebbie Black
3:00-4:00 PMBreak and poster session
4:00-5:00 PMSession 4Moderators: Joe (Zhongxia) Qi and Lucilla Pizzo
4:00-4:15 PMA curated research catalogue of structural variation from 809 postnatal cases detected by optical genome mappingAndy Wing Chun Pang, Alex Chitsazan, Shuk Shukor, Alex Hastie, Alka Chaubey
4:15-4:30 PMA search for genetic determinants in neural tube defects using optical genome mappingNikhil Shri Sahajpal, Benjamin Hilton, Barbara R. DuPont, Michael J. Friez, Roger E. Stevenson
4:30-4:45 PMCross-comparison of optical genome mapping and chromosomal microarray data using VIA softwareJames Yu, Jen Hauenstein, Gunter Scharer, Ulrich Broeckel, Alex Hastie, Alka Chaubey
4:45-5:00 PMCreation of a successful internal cytogenetics training program for the development of future technologistsMichael Ryan Manning, Virginia Thurston
5:00-6:00 PMPre-dinner break
6:00-7:00 PMReception
7:00 PMDistinguished Cytogeneticist Dinner
Recipient: Nyla Heerema
Introduction by Cecelia Miller

Tuesday, June 4

7:00-8:00 AMContinental breakfast
8:00-10:00 AMSession 5Moderators: Anna Chockalingam and Laura Bryant
8:00-8:15 AMRe-evaluation of genomic CNVs overlapping new dosage sensitive genes at an academic reference laboratory in accordance with ClinGen dosage sensitivity curationDenise I Quigley, Daniel P Reich, Coumarane Mani, Zoe K Lewis
8:15-8:30 AMDosage sensitivity curation of recurrent CNVs: A novel scoring metric to assist clinical CNV interpretationJohn Herriges, Zoe K. Lewis, Bradley Coe, Cassandra K. Runke, Rachel D. Burnside, Laura K. Conlin, Benjamin A. Hilton, Nicole Hoppman, Vaidehi Jobanputra, Brynn Levy, Lucilla Pizzo, Erin Rooney Riggs, Andrea K. Vaags, Shulin Zhang, Christa Lese Martin, Erica F. Andersen
8:30-8:45 AMThink before you toss: Analysis of DNA and RNA from methanol-acetic acid fixed cell pelletsJiyong Wang, Heather Amidon, Kevin Valencia, Michael S. Mullen, Holli M. Drendel, Virginia C. Thurston
8:45-9:00 AMAtypical MCC and microarray results from multiple gestation pregnanciesSaeideh Torabi Dalivandan*, Fumin Lin, T. Niroshi Senaratne, Alden Huang, Valerie A. Arboleda, Sung-Hae L. Kang
9:00-10:00 AMKeynote speaker: Lisa Shaffer
Exploiting Opportunities to Create Disruptive Change
Introduction by Sue Ann Berend
10:00-10:30 AMBreak (all exhibits available for viewing)
10:30 AM-12:00 PMISCN Presentation and DiscussionJean McGowan-Jordan, Laura Conlin
12:00 PMLunch and afternoon on your own or optional activities
6:00 PMClosing party

Wednesday, June 5

7:30-8:30 AMContinental breakfast
8:30-8:45 AMACC Service Award
Recipient: Sue Ann Berend
Introduction by Denise Quigley
8:45-9:00 AMBreak
9:00-10:00 AMKeynote speaker: Thomas Liehr, PhD
Uniparental disomy – always a chromosomic disorder
Introduction by Ross Rowsey
10:00-10:45 AMSession 6Moderators: Lauren Walters-Sen and Nikhil Shri Sahajpal
10:00-10:15 AMA case of partial trisomy 13 not detected on prenatal cfDNA screenLaura Bryant, Mari Mori, Bimal P. Chaudhari, Michael Zinmeister, Nathan Johnson, Elizabeth Hamelberg, Kimberly Wetherell, Don Roman, Jeffrey Wobser, Joon Kim, Matthew Meleski, Veronica Reher, Shalini C. Reshmi, Jason P. Garee, Jesse Hunter, Catherine Cottrell, Marco Leung, Taylor Porter, Theodora Matthews, Yassmine Akkari
10:15-10:30 AMPositive predictive value of low fetal fraction and atypical prenatal cfDNA screening resultsQiliang (Andy) Ding*, Nicole L Hoppman, Erik C Thorland, Cherisse A Marcou, Nicole J Boczek, Hutton M Kearney, Natasha T Strande, Ross A Rowsey
10:30-10:45 AMChallenges in detection of higher copy sex chromosome aneuploidy by cfDNA screening: the critical role of diagnostic testingLauren A. Choate, Courtney Studwell, David T. Miller, Anne B.S. Giersch, Samantha L.P. Schilit, Heather M. Mason-Suares
10:45-11:15 AMBreak
11:15-11:45 AMSession 7Moderator: Cate Paschal
11:15-11:30 AMFive new cases of dual IGH translocations in patients with multiple myelomaMakenzie L. Fulmer, Denise I. Quigley, M. Katharine Rudd, Erica F. Andersen
11:30-11:45 AMA novel, atypical ETV6::RUNX1 fusion formed by exonic insertion of ETV6 into RUNX1 in a pediatric patient with precursor B-cell acute lymphoblastic leukemiaLei Zhang, John Herriges, Lisa Lansdon, Midhat Farooqi, Elena Repnikova
11:45 AM-12:30 PMBusiness meeting and closing

*Student award winner