American Society of Human Genetics annual meeting
Poster # tbd
Tuesday, October 27, 2020 12:00 - 12:00pm Abstract Poster
Mari Rossi, Kelly Radtke, Samin A. Sajan, Deepali N. Shinde, Jennifer Huang, Kelly Hagman, Adam Chamberlin, Hamed Masnadi-Shirazi. Automated HPO terms matching reduces analysis time but does not completely eliminate the requirement for manual review of exome sequencing results.
Poster # tbd
Tuesday, October 27, 2020 12:00 - 12:00pm Abstract
Shawn Fayer, Carrie Horton, Jennifer N. Dines, Alan F. Rubin, Marcy E. Richardson, Kelly McGoldrick, Felicia Hernandez, Tina Pesaran, Rachid Karam, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita. Closing the gap: Systematic clinical integration of multiplexed functional data to resolve variants of uncertain significance.
Session # tbd
Friday, October 30, 2020 10:30 - 11:00am Abstract
Dong Li, Daniëlle G.M. Bosch, Elizabeth J. Bhoj, Mar Costa-Roger, Maji Debanjana, Qin Wang, Leslie Granger, Andrea Petersen, Carrie Hammond, Michael Parker, Michael E. March, Mark R. Battig, Hanna Faghfoury, L. Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Alice Brooks, Michele Iacomino, Federico Zara, Meghan Towne, Kirsty McWalter, Raymond Louie, Michael Lyons, Miroslava Hancarova, Zdenek Sedlacek, Gemma AznarLaín, Martin Schwarz, Timothy J. Maarup, Tugce B. Balci, Carlo Marcelis, Bert B.A. de Vries, Jozef Gecz, Elaine H. Zackai, Yuanquan Song, Gijs van Haaften, Clara Kielkopf, Luis A. Pérez-Jurado, Hakon Hakonarson. De novo recurrent variants in U2AF2 RNA-binding domains in an intellectual disability syndrome