| Title | Author (BG) | Type | Date / Time / Location |
| Physician Recommendations after Germline Sequencing in Pediatric Cancer Patients: Texas KidsCanSeq Study | In collaboration with Texas Children’s Hospital | Featured Platform Presentation Abstract // OP011 | March 24 8:00 am – 9:00 am Meeting Room // Karl F. Dean Grand Ballroom |
| Novel Biomarkers of Succinic Semialdehyde Dehydrogenase Deficiency Highlight Opportunities for Screening and Detection of GABA Catabolism Pathway Abnormalities | Charul Gijavanekar, PhD | Abstract // eP013 Biochemical and Metabolic Genetics | March 24 10:30 am – Noon Exhibit Hall |
| Development of an in-house whole transcriptome test for evaluation of Splicing VUS variants: experience and challenges in variant interpretation | Xiaonan Zhao, PhD | Abstract // eP421 Laboratory Genetics and Genomics | March 24 10:30 am – Noon Exhibit Hall |
| Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology | Hongzheng Dai, PhD | Abstract // eP337 Laboratory Genetics and Genomics | March 24 10:30 am – Noon Exhibit Hall |
| Metabolomics Reveals Measurable Perturbations in De Novo Ceramide Biosynthesis in DEGS1 Associated-Hypomyelinating Leukodystrophy – Towards a Clinically Significant Biomarker Profile | In collaboration with Emory University | Abstract // eP176 Clinical Genetics and Therapeutics | March 25 10:45 am – Noon Exhibit Hall |
| Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis | Nichole M. Owen, PhD | Abstract // eP462 Prenatal Genetics | March 25 10:45 am – Noon Exhibit Hall |
| Prenatal Exome Sequencing Analysis in the Clinical Setting of Fetuses with Structural Anomalies or Increased Nuchal Translucency | In collaboration with Baylor College of Medicine | Abstract // eP474 Prenatal Genetics | March 25 10:45 am – Noon Exhibit Hall |
ACMG 2022
ACMG 2022
Conference Location
Music City Center
201 Rep. John Lewis Way S.
Nashville, TN 37203
Conference Dates
Mar. 23 - Mar. 26
Booth Number
624
Conference WebsiteACMG 2022