CSER at the ACMG 2022 Meeting!

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:

ePosters

• 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)

• Meagan Cochran (SouthSeq) will be giving a platform presentation on 'Comparing Error Rates in Disclosure of Genome Sequencing Results Between Non-Genetics Providers and Genetic Counselors'. This will be part of a series of platform presentations on Public Health, Health Services, and Implementation (3:30pm - 5:00pm CT). These presentations will be livestreamed.

Thursday, March 24 2022 (Platform Presentations)

• Sharon Plong (KidsCanSeq) will be giving a platform presentation on 'Physician Recommendations after Germline Sequencing in Pediatric Cancer Patients: Texas KidsCanSeq Study'. This will be part of a series of Featured Platform Presentations (8:00am - 9:00am CT) and will be livestreamed.