Curating the Clinical Genome 2019

Conference ~ May 29 2019 to May 31 2019 

Co-hosted by ClinGen and DECIPHER, the Curating the Clinical Genome conference will be of interest to a wide group of medical genomics researchers, clinicians practicing genomic medicine, companies developing solutions for clinical genomics and researchers interested in genomic data sharing.

Washington Marriott Wardman ParkWashington, DC, USA

Co-hosted by ClinGen and DECIPHER, the Curating the Clinical Genome conference will be of interest to a wide group of medical genomics researchers, clinicians practicing genomic medicine, companies developing solutions for clinical genomics and researchers interested in genomic data sharing.

Program

2019 Curating the Clinical Genome Program

Abstracts

Abstracts Selected for Platform Presentations

Abstracts Selected for Poster Presentations

Available Presentations

Semantic Phenotype Integration for Clinical Diagnostics Peter Robinson, MD, MS, The Jackson Laboratory

Is Likely Pathogenic Really 90% Likely? A Look at the Data Steven Harrison, PhD, Broad Institute

Constructing a Quantitative Metric for Evaluating the Clinical Significance of Recurrent Copy Number Variants John Herriges, PhD, Children’s Mercy Hospital

Genome-wide Polygenic Scores for Cardiovascular Disease Amit Khera, MD, Massachusetts General Hospital

The Polygenic Contribution to Developmental Disorders Mari Niemi, PhD, Wellcome Sanger Institute

Genomics4RD: A Data Lake Powering Rare Disease Research Across Canada Kym Boycott, MD, PhD, Children’s Hospital of Eastern Ontario, University of Ottawa, Canada

ClinGen Linked Data Hub Aleksandar Milosavljevic, PhD, Baylor College of Medicine

Citizen Science for Biocuration Andrew Su, PhD, The Scripps Research Institute

The Gene Curation Coalition: A Global Effort to Harmonize Gene-level Resources Marina DiStefano, PhD, Harvard Medical School

CRISPR Engineered BRCA1 Variants Lea Starita, PhD, University of Washington

Implementing Universal Lynch Syndrome Screening Alanna Kulchak Rahm, PhD, MS, Geisinger

Estonia Familial Hypercholesterolemia Screening Tõnu Esko, PhD, University of Tartu, Broad Institute