Wednesday
October 18
- Poster Session 3:00 PM – 4:00 PM (6 Posters)
- Oral Presentations 12:00 PM – 12:15 PM
Thursday
October 19
- Poster Session 3:00 PM – 4:00 PM (5 Posters)
- Beyond DNA: How Functional Assays Enable Precision Diagnosis 7:15 AM – 8:45 AM
Friday
October 20
- Poster Session 12:30 PM – 1:30 PM (5 Posters)
- Oral Presentations 9:00 AM – 9:15 AM
Saturday
October 21
- Oral Presentations 10:00 AM – 10:15 AM
Rachid Karam, MD, PhD, Associate Director, ATG Lab Ambry Genetics
Ambry’s ATG lab was launched in 2016 with the goal of reducing the overall number of uncertain and uninformative results on clinical molecular testing through follow-up functional studies. Functional studies performed in the ATG lab include targeted RNA studies for gross duplications and splicing variants of unknown significance, as well as whole transcriptome sequencing (RNA-Seq) for patients with a clear clinical presentation but for whom DNA molecular testing failed to detect an explanatory alteration(s).
Session
P2380W
Brigette Tippin Davis, Carin Espenschied, Carrie Horton, Fergus Couch, Holly Laduca, Jill Dolinsky, Kelly Fulk, Laura Panos, Melissa Pronold
Session
P2470W ‡
Adam Chamberlin, Elaine C. Weltmer, Heather Newman, Igor Petrik, Jade Tinker, Jing Wang, Rachid Karam, PhD, Rhonda Lassiter, Shoji Ichikawa, Tiffiney Carter, Tina Pesaran, MA, MS, CGC
Session
P517W
Brissa Martin, Brittany Dougall, Christian Antolik, Jill Dolinsky, Lily Hoang, Sam Martin, Tami Johnston
Session
P590W
Brady Barrows, Elizabeth Spiteri, Jamie A. Massie, Katherine Helbig, Luis Rohena, Rebecca Burns, Rocio Martinez, Samin Sajan, Sheila Saliganan, Wendy Alcaraz, Zöe Powis
Session
P1537W
Brian Schoenfeld, Holly Laduca, Huy Vuong, Meghan Towne, Patrick Reineke, Sha Tang
Session
P679W
Aaron Elliott, Dajun Qian, Mary Helen Black, Shuwei Li, Yuan Tian
Session
P692T
Aaron Elliott, Brice A. J. Sarver, Hsiao-Mei Lu, Mary Helen Black, Shuwei Li
Session
P986T
Deepali Shinde, Katalin Scherer, Kelly Radtke, Mari Rossi, Maureen Galindo, Zöe Powis
Session
P2420T
Christian Antolik, Jill Dolinsky, Jing Wang, Lan Qin, Lily Hoang, Tami Johnston, Tina Pesaran, MA, MS, CGC
Session
P2471T
Elaine C. Weltmer, Heather Newman, Jade Tinker, Jing Wang, Lucia Guidugli, Negar Ghahramani, Rhonda Lassiter, Shoji Ichikawa, Tiffiney Carter, Tina Pesaran, MA, MS, CGC
Session
P2558T
Charis Eng, Helio Costa, Jessica Mester, Jill Barnholtz-Sloan, Joanne Ngeow, Kaitlin Sesock, Katherine Lachlan, Kathleen Hruska, Liying Zhang, Madhuri Hegde, Rachid Karam, PhD, Rajarshi Ghosh, Robert Huether, Sharon Plon, Tina Pesaran, MA, MS, CGC
Session
P2376F
Aaron Elliott, Hsiao-Mei Lu, Jacob Clifford, Mary Helen Black, Shuwei Li
Session
P621F
Carrie Horton, Chia-Ling Gau, PhD, DABMG, Holly Laduca, Jessica Grzybowski
Session
P597F
Adam Chamberlin, Carin Espenschied, Ira Lu, Kate Krempely, Rachid Karam, PhD
Session
P2418F‡
Aaron Elliott, Dajun Qian, Hsiao-Mei Lu, Jacob Clifford, Mary Helen Black, Shuwei Li, Yuan Tian
Session
P2529F
Cameron Mroske, Deepali Shinde, Jesse Hunter, Katherine Helbig
Session
23, Abstract Program #111
Session
15, Abstract Program #63
Session
18, Abstract Program #82
Session
13, Abstract Program #52
Session
58, Abstract Program #229
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