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 |
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 |
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 |
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 |
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 |
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 |
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 |
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