American Society of Human Genetics annual meeting
San Diego Convention Center 111 W Harbor Dr, San Diego, CA 92101 US
Poster # 1532F
Friday, October 19, 2018 3:00 - 4:00am Abstract
Adam Chamberlin, Min-Sun Park, Igor Petrik, Hsiao-Mei Lu, Bryn Fenwick. Automating Variant Assessment using Structural Features.
Poster # 463F
Friday, October 19, 2018 3:00 - 4:00pm
Yuan Tian, Adam Chamberlin, FENW, Tina Pesaran, Chia-Ling Gau, Hsiao-Mei Lu, Mary Helen Black, Dajun Qian. BayesDel and REVEL outperform other in silico meta-predictors for variant classification.
Poster # 1454F
Friday, October 19, 2018 3:00 - 4:00pm Abstract
Min-Sun Park, Adam Chamberlin, Igor Petrik, Deepali Shinde, Rhonda Lassiter, Felicia Hernandez, Tina Pesaran, Chia-Ling Gau, Hsiao-Mei Lu, Bryn Fenwick. The Road to Atomistic Pathology.
Poster # 745T
Friday, October 19, 2018 2:00 - 3:00pm
Mary Helen Black, Shuwei Li, Holly LaDuca, Jefferey Chen, Robert Hoiness, Stephanie Gutierrez, Brigette Tippin Davis, Hsiao-Mei Lu, M. Gielzak, K. Wiley, Z. Shi, H. Yu, B.T. Helfand, W. Isaacs, J. Xu. Validation of a prostate cancer genetic risk score for clinical use.
Poster # 763T
Thursday, October 18, 2018 2:00 - 3:00pm
Anton Safonov, Virginia Speare, Jill Dolinsky, Amal Yussuf, Chia-Ling Gau. Clinical and molecular characteristics of somatic NF1 mutations identified on hereditary cancer multi-gene panels.
Poster # 1456T
Thursday, October 18, 2018 2:00 - 3:00pm
Dajun Qian, Yuan Tian, Jacob Clifford, Brice Sarver, Adam Chamberlin, Bryn Fenwick, Tina Pesaran, Chia-Ling Gau, Hsiao-Mei Lu, Mary Helen Black. Integrated Bayesian analysis outperforms existing methods for variant classification.
Poster # 3046T
Thursday, October 18, 2018 3:00 - 4:00pm Abstract
Steven M. Harrison, Jill Dolinsky, Wenjie Chen, Alison Coffey, Christin D. Collins, Soma Das, Joshua L. Deignan, Kathryn B. Garber, John Garcia, Olga Jarinova, Izabela Karbassi, Amy E. Knight Johnson, Juha W. Koskenvuo, Hane Lee, Rong Mao, Ales Maver, Rebecca Mar-Heyming, Andrew McFaddin, Krista Moyer, Narasimhan Nagan, Stefan Rentas, Avni B. Santani, Carol Saunders, Eija H. Seppälä, Brian Shirts, Timothy Tidwell, Scott Topper, Lisa M. Vincent, Kathy Vinette, Heidi L. Rehm. Scaling the Resolution of Sequence Variant Classification Discrepancies in ClinVar.
Poster # 682T
Thursday, October 18, 2018 3:00 - 4:00pm
Deborah I. Ritter, C. Badduke, M. Anderson, K. Clark, R.H. Giles, M. Griffith, O. Griffith, Carrie Horton, K. Hruska, C. Kesserwan, K. Krysiak, L. Kujan, M. Luo, J. Machado, E. Maher, Kelly McGoldrick, R. Patel, Tina Pesaran, T. Stockley, A. Tirosh, Y. Wang, S.E. Plon, R.H. Kim, ClinGen VISION VHL Expert Panel. VHL Information Sharing International Consortium (VISION): A ClinGen Expert Panel to Evaluate VHL Gene-Specific Criteria for Variant Interpretation.
Poster # 2910W ‡
Wednesday, October 17, 2018 3:00 - 4:00pm Abstract
Deepali Shinde, L. Rohena, S. Weatherspoon, Katherine Helbig, Christian Antolik, D.R. Hamlin, J.M. Berg, Schul, Catherine Schultz, Zöe Powis, Sha Tang, Kelly Radtke. De novo missense variants in the alternative exon 5 of SCN2A are a rare cause of neurodevelopmental disorders with or without seizures.