CSER at ACMG 2022

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 March 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

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.

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.