American Society of Human Genetics Annual Meeting
Booth #1059 Summer St, Boston, MA 02210 US
Meet Ambry Scientific Experts at ASHG! We'll be at booth #1059. Stop by or register using the link below.
Poster # 5039F
Friday, October 17, 2025 2:30 - 4:30pm Abstract
Sebastian A. Vishnopolska, Ashley P.L. Marsh, Felicia Hernandez, Xiaoyan Jia, Shelby Hemker, Elena Glick, Veronica Glaser, Anthony Scott, Jacob O. Kitzman. A comprehensive, clinically calibrated MAVE (multiplex assay of variant effect) for the human MutLɑ complex genes MLH1 and PMS2.
Poster # 9007F
Friday, October 17, 2025 2:30 - 4:30pm Abstract Poster
Colin Young, Jamie Weyandt, Cassidy Carraway, Kristin Kohler, Carolyn Horton. Isoform-specific loss of function variants in CDKN2A and their association with cancer phenotypes.
Poster # 4069F
Friday, October 17, 2025 2:30 - 4:30pm Abstract Poster
Greta Pitsava, Krista Bluske, Ivan De Dios, Rebekah Barrick, Sami Belhadj, Erica Smith, Miguel Almalvez, Arthur Ko, Lightning Auriga, Rachid Karam, Changrui Xiao, Emmanuèle C. Délot, Seth Berger, Eric Vilain. Long-read genome sequencing resolves genetic cases missed by short-read sequencing.
Poster # 9005F
Friday, October 17, 2025 2:30 - 4:30pm Abstract Poster Video
Magan Trottier, Kristin Kohler, Cassidy Caraway, Jennifer Herrara-Mullar, Marcy E. Richardson. Low allele fraction, high stakes: Discerning germline mosaic TP53 variants from clonal hematopoiesis of indeterminate potential (CHIP).
Poster # 4004F
Friday, October 17, 2025 2:30 - 4:30pm Abstract Poster
Meghan Towne, Brooklynn Gasser, Jessica Gage, Grace VanNoy, Heather Zimmermann. Targeted RNA studies offer new opportunities to reduce uncertainty and increase diagnostic yield.
Poster # 9043W
Wednesday, October 15, 2025 2:30 - 4:30pm Abstract
Sharon E. Plon, Jasmine Baker, Jennifer Herrera-Mullar, Giovana Torrezan, Volkan Okur, Leda Torres Karen Gripp, Payal Shah, Katherine Nathanson, Marc Greenblatt, Fergus Couch. Advancing clinical validity curation and disease naming in hereditary cancer: A comprehensive recuration of breast, ovarian, colon cancer and polyposis disease genes.
Poster # 7045W
Wednesday, October 15, 2025 2:30 - 4:30pm Abstract
Sally Nijim, Mimi Kim, Melissa Denish, Michael V. Gonzalez, Joseph Zinski, Claudine Rieubland, Dominique Braun, Elsebet Ostergaard, Amelle Shillington, Laurence Olivier-Faivre, Aurore Garde, Julien Maraval, Christophe Philippe, Fréderic Tran Mau-Them, Amy Crunk, Megan Hawley, Bert Callewaert, Maria Iascone, Anna Cereda, Cecilia Daolio, Tova Hershkovitz, JeanMarc Good, Katharina Steindl, Tanja Frey, Anita Rauch, Alexandra Afenjar, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nicolette den Hollander, Yvonne Hilhorst-Hofstee, Saskia Koene, Emilia Bjilsma, Gijs Santen, Sara Berger, Lakshmi Mehta, Radka Stoeva, Clara Houdayer, Paul Gueguen, Helene Faust, Sabine Specht, Annick Klabunde-Cherwon, Melik Malek Khelifa, Anke Bergman, Carol Saunders, Magdalena Krygier, Diana Carrasco, Kay Metcalfe, Stephan Sanders, David Y. Zhang, Renae Judy, Jozef Gecz, Corrado Romano, Cindy Skinner, Angie Lichty, Ellen Linebaugh, Steven A. Skinner, Maria Chahrour, Tianyun Wang, Kun Xia, Hui Guo, Sien Van Daele, Gert Van Goethem, Christina Fagerberg, Jesper Graakjaer, Susanne Anders, Heike Fink, Isum Ward, Dorothy K. Grange, Alanna Strong, Petra Zwijnenburg, Meghan Towne, Johannes A. Mayr, Jennifer Morrison, Aditi Dagli, Jonathan Levy, Yline Capri, Rebecca C. Spillman, Sarah Hart, Vandana Shashi, Boris Keren, Tjitske Kleefstra, Rolph Pfundt, Christian Gilissen, Evan E. Eichler, Melanie Brugger, Michael Zech, Wendy Chung, Maria Fasolino, Eric D. Marsh, Caroline Dias, David Fajgenbaum. Characterization of the genetic and phenotypic spectrum of a novel neurodevelopmental syndrome, TCF7L2-related neurodevelopmental disorder (TRND).
Poster # 3038W
Wednesday, October 15, 2025 2:30 - 4:30pm Abstract
Jennifer Scalia, Jessica Laprise, Jason Thrift, Christopher Farrell, Sara Sarasua. Conversational AI in cancer genetic education: A critical review of assessment metrics and methodologies.
Poster # 5009W
Wednesday, October 15, 2025 2:30 - 4:30pm Abstract Poster Video
Heather Zimmermann, Shoji Ichikawa. Don’t judge a variant by its position: +2T>C and the splicing surprise.
Poster # 8031W
Wednesday, October 15, 2025 2:30 - 4:30pm Abstract Poster
Nora Urraca, Holly Lydigsen, Shoji Ichikawa, Victoria Suslovitch, Roya Mostafavi. RNA splicing analysis reclassified two variants of uncertain significance in an autosomal recessive Noonan syndrome case.
Poster # 8027W
Wednesday, October 15, 2025 2:30 - 4:30pm Abstract Poster
Lana Sheta, Andrew Giles, Abigail Kosmin, Ginger Tsai, Erica Smith. Uniparental disomy mysteries: How chromosomal microarray and exome sequencing can provide UPD clues that influence the diagnostic odyssey.
Poster # 9017T
Thursday, October 16, 2025 2:30 - 4:30pm Abstract Poster
Marcy E. Richardson, Taylor D. Coleman, Carrie Horton, Magan Trottier, Linda Polfus, Leah Zaretsky, Aimee Lucas. An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort.
Poster # 2023T
Thursday, October 16, 2025 2:30 - 2:30pm Abstract
Vikas Pejaver, Himanshu Sharma, Timothy Bergquist, Sarah L. Stenton, Emily A. W. Nadeau, Alicia B. Byrne, Marc S. Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Anne O'Donnell-Luria, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner. Expanding and automating the calibration of computational tools for clinical variant classification .
Poster # 5023T
Thursday, October 16, 2025 2:30 - 4:30pm Abstract
Scott T. Pew, Julie L. Boyle, Marcy E. Richardson, Madison B. Wiffler, Russel Bell, Emily Nadeau, Colin C Young, Predrag Radivojac, Steven E. Brenner, Marc Greenblatt, Sean V Tavtigian. REVElations: Uncovering hidden heterogeneity lurking in the generalized calibration of computational tools.
Poster # 7031T
Thursday, October 16, 2025 2:30 - 4:30pm Abstract Poster Video
Erica D Smith, Greta Pitsava, Krista Bluske, Changrui Xiao, Rebekah Barrick, Ivan De Dios, Kirsten Blanco, Elizabeth Chao, Kelly Radtke, Eric Vilain, Emmanuèle C. Délot, Seth Berger, Rachid Karam. The limits of Mendelian assumptions in genomic diagnostics: Evidence from longread whole genome sequencing and exome analysis.
Session # tbd
Thursday, October 16, 2025 2:00 - 2:15pm Abstract
Anthony Scott, Felicia Hernandez, Ashley P.L. Marsh, Kristin Kohler, Xiaoyan Jia, Sebastian Vishnopolska, Sami Belhadj, Matthew Varga, Grace Clark, Sajini Jayakody, Bala Burugula, Rachid Karam, Jacob Kitzman. A multiplex assay of variant effect (MAVE) of MSH6 enables accurate, prospective Lynch Syndrome clinical variant interpretation
Session # tbd
Thursday, October 16, 2025 11:00 - 11:15am Abstract
L. Boukas, E. C. Délot, G. Pitsava, C. Lambert, C. Fanslow, P. Baybayan, S. Belhadj, B. Losic, J. Harting, K. Bluske, J. LoTempio, H. B. Al-Kouatly, R. Karam, W. J. Rowell, C. Xiao, E. Vilain, S. I. Berger. Identification of de novo variants from parent-proband duos via long-read sequencing
Session # tbd
Thursday, October 16, 2025 9:15 - 9:30am Abstract
Brenna M Boyd, Carrie Koval-Burt, Katherine Langley, Laura Amendola, Amber Begtrup, Jennifer Bradley, Candace Cameron, Onassis Castillo Ceballo, Winnie Chen, Alison J. Coffey, Lilian L. Cohen, Joseph M. Devaney, Beata Dygulska, Bethany Friedman, Mehmet Bugrahan Duz, Jamie Galarza-Cornejo, Adam Guenzel, Awura Gyimah, Rebecca Hernan, Kathleen S. Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, D. Aaron Johnson, Rachel Klein, Rudolph L. Leibel, Bobbi McGivern, Kirsty McWalter, Kristin G Monaghan, Leanne Owens, Yeyson Quevedo, Samantha Ratner, Natasha Shapiro, Robert J. Sicko, Samuel Strom, Alban Ziegler, Rebekah Zimmerman, Ryan J Taft, Denise M. Kay, Michele Caggana, Paul Kruszka, Wendy K Chung. The GUARDIAN expanded newborn screening study: Short-and medium-term follow-up with the first 15,000 participants enrolled