Venue
ACMG 2019
Washington State Convention Center
705 Pike St
Seattle, WA 98101
Dates
Apr. 3 – Apr. 5
Booth
621
Website
Title |
Author |
Type / Poster # |
Date / Time / Location |
|
| 1 | Variants unmasked by recurrent deletions improve variant interpretation and genotype-phenotype correlation | Bo Yuan, Ph.D. | POSTER TALK // #741 Laboratory Genetics and Genomics |
Apr. 4 11:15 am – 11:45 am Learning Lounge #1 |
| 2 | Broad-Scale Untargeted Metabolomic Profiling as an Initial Approach to Clinical Diagnosis of Inborn Errors of Metabolism | Ning Liu, Ph.D. | PLATFORM PRESENTATION // #690 Biochemical and Metabolic Genetics |
Apr. 5 10:30 am – 12:00 pm Washington State Convention Center Room 6C |
| 3 | Clinical Validation of Whole Genome Sequencing | Pengfei Liu, Ph.D. | EXHIBIT THEATER // #2 Laboratory Genetics and Genomics |
Apr. 5 11:20 am – 11:50 am Exhibit Hall // Theater #2 |
Title |
Author |
Type / Poster # |
Date / Time / Location |
|
| 1 | Exome reanalysis by leveraging human phenotype ontology terms. | Rajarshi Ghosh, Ph.D. | POSTER // #741 Laboratory Genetics and Genomics |
Apr. 4 10:00 am – 11:30 am Exhibit Hall |
| 2 | Clinical utility of non-invasive prenatal screening for common dominant single gene disorders | Ye Cao, Ph.D. | POSTER // #885 Laboratory Genetics and Genomics |
Apr. 4 11:15 am – 11:45 am Exhibit Hall |
| 3 | De novo missense variants in GARS cause severe early-onset Spinal Muscular Atrophy — Implications for diagnosis and treatment
TOP RATED POSTER |
Rajarshi Ghosh, Ph.D. | POSTER // #258 Clinical Genetics and Therapeutics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 4 | Variants unmasked by recurrent deletions improve variant interpretation and genotype-phenotype correlation
TOP RATED POSTER |
Bo Yuan, Ph.D. | POSTER // #660 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 5 | Clinical applications of NGS panels and exome on patients with hematologic and primary immune disorders | Linyan Meng, Ph.D. | POSTER // #672 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 6 | Experience and Challenges of Variant Classification of the DMD Gene in Reproductive Carrier Testing | Hanyin Cheng, Ph.D. | POSTER // #690 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 7 | The incorporation of CYP21A2 to a multi-gene carrier screening panel: analytical comparison of different molecular methodologies | Blake Atwood, Ph.D. | POSTER // #716 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 8 | A common pan-ethnic exonic deletion in TBCK gene causes early onset hypotonia and psychomotor retardation identified through clinical exome sequencing | Hongzheng Dai, Ph.D. | POSTER // #800 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 9 | Challenges and considerations of variant classification for dominant monogenic Mendelian conditions in the setting of non-invasive prenatal screening test. | Shen Gu, Ph.D. | POSTER // #884 Prenatal Genetics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 10 | Full gene sequencing based expanded carrier screening of over 150 disorders at Baylor Genetics | Shu Wen, Ph.D. | POSTER // #916 Prenatal Genetics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |