A multitude of posters highlighting CSER research will be featured at the American Society of Human Genetics 2020 Annual Meeting. ASHG 2020 is being held virtually, and will run from October 27 to 30.

A full list of CSER work at ASHG 2020 can be found online here in Google Doc format for easy reference, and are included below:

Posters (October 26, 2020)

  • Anne Slavotinek, poster 3326Exome sequencing in a diverse pediatric and prenatal population provides insights into unsolved malformation syndromes.
  • Barb Biesecker, poster 3088What is Usual Care in Genetic Counseling Research? Evidence from CSER Consortium Studies
  • Henoke Shiferaw, poster 2130Identification of Polyadenylation Signals Relevant to Mendelian Disease Variant Interpretation
  • Kathleen Muenzen, poster 2063Communication and informatics strategies for implementing multi-institutional data collection and sharing through a Data Coordinating Center
  • Kevin Bowling, poster 3388Unexpected Genetic Findings in a Cohort of Critically Ill Newborns
  • Susan Hiatt, poster 3305Clinical application of long-read sequencing technology to neurodevelopmental disorder diagnosis.
  • Tiffany Yip, poster 3167Expanding the phenotype of Snijders Blok-Campeau syndrome in two Latinx patients.
  • Laura Amendola, poster 3391Variant classification concordance in the ACMG-59 gene-disease pairs across nine laboratories performing sequencing for genomic implementation research studies

October 28, 2020

Presentation (11:15 - 11:30am Eastern Time; full scientific session 10:30 - 12:00pm Eastern TIme)

  • Julianne O'Daniel (NCGENES 2) will be giving a presentation (#1159) as part of a session (#018) on Strengh in Diversity highlighting an effort to understand how universities and research institutions can build trust in African American communities. The team presented an interactive panel discussion at a Black Communities Conference for Collaboration in Durham, NC. The session was recorded and audience members were asked to fill in a short survey. These responses were analyzed and the team noted that although mistrust was pervasive in this highly educated group, it was not a barrier to participate in past or future genomic medicine studies. However, there continues to be a need to build trust in underrepresented communities.