CSER at ASHG 2020

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:

October 26, 2020

Posters

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

October 28, 2020

Presentation (11:15am - 11:30am ET)
Full Scientific Session (10:30am - 12:00pm ET)

• Julianne O'Daniel (NCGENES 2) will be giving a presentation (#1159) as part of a session (#018) on Strength 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.