ASHG 2025 Visit Us At Booth #1059

American Society of Human Genetics Annual Meeting


Ambry Genetics is a proud sponsor of the ASHG annual meeting. Visit us at booth 1059 and learn how we are powering proactive care decisions through expertly-curated hereditary cancer testing. We look forward to seeing you in Boston!

We're Excited For You to Join Us

Meet the Experts

Thursday, October 16 10:00am

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.

  • Rachid Karam, MD, PhD - Thursday 10/16 10-10:45AM (coffee break) - Rachid is passionate about bridging cutting-edge technologies to improve patient outcomes, making him an ideal fit for his role as Vice President of Research & Development at Ambry Genetics. Meet Rachid to learn more about his mission to integrate RNA sequencing into clinical genetic testing across specialties.  
  • Marcy Richardson, PhD - Thursday 10/16 10-10:45AM (coffee break) - At Ambry, Marcy acts as the Director of Clinical Research, leading her team in the development and execution of research to help improve the clinical utility of genetic testing. She also has a special interest in BRCA1 and BRCA2 genes, among others, and participates in ENIGMA and is the chair of ClinGen’s Hereditary Breast, Ovarian and Pancreatic Cancer VCEP.
  • Seth Berger, MD, PhD - Friday 10/17 10-10:45AM (coffee break) - As Translational Genomics Director for Rare Disease at Ambry Genetics, Seth works closely with the Research & Development team to assess new technologies for molecular diagnostics of Rare Diseases. Come chat with Seth about undiagnosed cases with suspected rare disease and Ambry's goals to decrease blind spots in clinical testing. 
  • Erica Smith, PhD - Friday 10/17 10-10:45AM (coffee break) -In her role as a Senior Clinical Research Scientist, Erica conducts in‑depth retrospective analyses of patient data to uncover meaningful genetic insights into rare diseases and showcase innovation of new diagnostic technologies. Erica is an author on three different posters at ASHG this year, and will be at the booth to answer your questions.
RSVP

Research

Contact an Author

Scientific Posters

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.

Oral Presentations

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

Get in Touch With Us While You are Here

Set up a Meeting

Our Blog

Read our blog on why Ambry is using evidence-based quality testing.

Read More

Search Results

Start your search...