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
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
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 # 9007F
Friday, October 17, 2025 2:30 - 4:30pm
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
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
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
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
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 # 5009W
Wednesday, October 15, 2025 2:30 - 4:30pm
Heather Zimmermann, Shoji Ichikawa. Don’t judge a variant by its position: +2T>C and the splicing surprise.
Poster # 8027W
Wednesday, October 15, 2025 2:30 - 4:30pm
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
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 # 5023T
Thursday, October 16, 2025 2:30 - 4:30pm
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
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
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
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