Posted on 22 March 2022 by CSER Coordinating Center · News
CSER investigators are leading a number of posters and presentations that are featured in the upcoming American College of Medical Genetics 2022 Meeting, which is a hybrid event held both virtually and in-person, and is scheduled to run Mar 22-26, 2022.
A full list of CSER work at the ACMG 2022 meeting can be found online here in Google Doc format. These are also included below:
- Donald Latner (SouthSeq). eP370. SouthSeq: Genome Sequencing for a Diverse Population of Hospitalized Infants.
- Noura S. Abul-Husn (NYCKidSeq). eP067. Diagnostic yield of genome sequencing versus targeted gene panel testing in diverse pediatric patients in the NYCKidSeq study.
- Haoyang Yan (NCGENES 2). eP442. Patients’ Reaction to and Interpretation of Secondary Genomic Findings with Limited or No Medical Actionability.
- Hadley Smith (KidsCanSeq). eP516. Cost-Effectiveness Frameworks for Comparing Genome and Exome Sequencing versus Conventional Diagnostic Pathways.
- Monisha Sebastin (NYCKidSeq). eP236. TeleKidSeq: Incorporating Telehealth into Clinical Care of Children from Diverse Backgrounds Undergoing Clinical Genome Sequencing.
- Kyle Brothers (SouthSeq). eP425. Parental Impact of Genome Sequencing During the Neonatal Period.
- Susan Hiatt (SouthSeq). eP141. Expansion of Long-read Genome Sequencing for the Molecular Diagnosis of Neurodevelopmental Disorders and Multiple Congenital Anomalies.
- James Holt (SouthSeq). eP144. Long-read genome sequencing secondary processing pipelines provide variant call accuracy that exceeds current clinical standards for short-read genome sequencing.
- Stephanie Felker (SouthSeq). eP122. The Clinical Significance of Poisoned Splicing Variants in Early-Onset Neurodevelopmental Disorders.
- Matthew Shear (P3EGS). eP243. A Novel Variant in MORC2 Associated with Pigmentary Retinopathy, Short Stature, Microcephaly and White Matter Abnormalities.
Presentations and Scientific Concurrent Sessions
Wednesday, March 23 2022 (Platform Presentations)
Thursday, March 24 2022 (Platform Presentations)