Genomic Sequencing Tests Generate Less Uncertainty and Higher Diagnostic Yield Compared to Multi-Gene Panel-Based Tests: Results of Over 1.5 Million Tests

American Society for Human Genetics Annual Meeting
ASHG 2022

Los Angeles, CA, October 25 - 29, 2022

Poster presentation: Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: results of over 1.5 million tests

Authors: Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen AS, Conlin LK, Das S, Davis KW, del Gaudio D, Del Viso F, DiVincenzo C,  Eisenberg M, Guidugli L, Hammer MB, Harrison SM, E Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T,  Radtke K, Rasmussen KJ, Retterer K, Saunders CJ,  Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I,  Thomas BC, Thomas-Wilson A, Erin Thorpe E, Tidwell TJ, Towne MC, Hana Zouk H

Specialties: Genetics, Neurology