Platform presentations of selected Genetics abstracts.
G008 - Germline RAD51B loss-of-function variants confer susceptibility to hereditary breast and ovarian cancers and result in homologous recombination deficient tumors
Diana Mandelker, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA
G014 - A framework of critical considerations in interpretation of NGS based tests for germline disorders - On Behalf of CLSI Document Development Committee (DDC) on Nucleic Acid Sequencing (MM09)
Avni Santani, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA
G023 - Integrated Germline and Somatic Analysis Identifies Actionable Cancer Predisposing Germline Mutations in 9,734 Patients with Advanced Cancers
Liying Zhang, MD, PhD, Memorial Slone Kettering Cancer Center, New York, NY, USA
G036 - Significance Associated with Phenotype (SAP) Score – A Method for Ranking Genes and Genomic Regions Based on Sample Phenotype
Jianling Ji, MD, MS, Children's Hospital of Los Angeles, South Pasadena, CA, USA
G010 - A Method to Missense Madness: Improving Clinical Variant Interpretation with a Pathway-Focused Functional Assay
Sarah Brnich, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Objectives:
- Analyze platform presentations of abstracts highlighted by the Genetics Subdivision leadership as particularly significant.
- Evaluate the scientific merit and significance of these selected studies through further discussion with the authors.
Duration: 1.25 hr
Recording Date: November 9, 2019
CME/CMLE credit: 1.25 hr
Last day to purchase course and CE claim credit: December 24, 2022
