American Society of Human Genetics (ASHG)

October 15-19  |  Houston, TX


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Scientific Posters

Poster # 990W

Wednesday, October 16, 2019 2:00 - 4:00pm

Shuwei Li, Dajun Qian, Bryony A. Thompson, Stephanie Gutierrez, Tina Pesaran, Holly LaDuca, Hsiao-Mei Lu, Elizabeth Chao, Mary Helen Black. Leveraging tumor characteristics to predict germline variant pathogenicity in mismatch repair genes.

Poster # 2449T

Thursday, October 17, 2019 2:00 - 4:00pm

Blair R. Conner, Marcy Richardson, Felicia Hernandez, Tyler Landrith, T. McBride, Brigette Tippin Davis, Rachid Karam. RNA-seq Identifies Structural Variants in Hereditary Cancer Genes.

Poster # 1454F

Friday, October 18, 2019 1:00 - 3:00pm

Dajun Qian, Jacob Clifford, Alexander Tchourbanov, Mary Helen Black, Hsiao-Mei Lu, Zhanyang Zhu, Shuwei Li. Accounting for splicing effects in known missense variants improves in silico prediction of deleterious effect.

Oral Presentations

Session # 112

Wednesday, October 16, 2019 1:00 - 2:00pm

Tyler Landrith, Bing Li, Ashley Cass, Blair Conner, Sitao Wu, Huy Vuong, Sinead Charpentier, Tina Pesaran, Julia Burdette, Elizabeth C. Chao, Joy Rae-Radecki Crandall, Holly LaDuca, Hsiao-Mei Lu, Brigette Tippin Davis, Aaron Elliot, Rachid Karam. High-throughput RNA splicing profile increases detection of clinically- actionable variants while reducing inconclusive results in patients with hereditary cancer predisposition

Session # 112

Wednesday, October 16, 2019 1:00 - 2:00pm

Shoji Ichikawa, Blair Conner, Sitao Wu, Rachid Karam. Reclassification of splicing VUS in neurological disease genes via RNA-seq

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