ASHG 2018 Tipsheet: Rare Disease Genetics

For Immediate Release
Wednesday, October 3, 2018
10:00 a.m. U.S. Pacific Time

Media Contact:
Ann Klinck


Tuesday through Saturday, Oct. 16-20, 2018


American Society of Human Genetics 2018 Annual Meeting
San Diego Convention Center
111 West Harbor Drive, San Diego, CA 92101


Invited and platform sessions and other presentations of the latest research in rare disease genetics.

Tuesday, Oct. 16, 2018

5:00-5:15 p.m., Hall C, Ground Level
Award Presentation: ASHG Victor A. McKusick Leadership Award Presentation and Lecture: Rare Variation of Genes and Genomes – Disease Traits, Clan Genomics, and Clinical Genomics: Insights into Disease Biology and Human Evolution

Wednesday, Oct. 17, 2018

9:30-9:45 a.m., Ballroom 20A, Upper Level
Presentation: Using Exomiser for rare disease variant interpretation at scale in the 100,000 Genomes Project. D. Smedley, Queen Mary University, London, et al

10:30 a.m.-12:30 p.m., Ballroom 20BC, Upper Level
Session: Clinical Spotlight: Realizing the Promise of Common Genomic Variation in Rare and Common Disease: Clinical Implementation of Polygenic Risk Scores

10:30-11 a.m., Ballroom 20A, Upper Level
Session: Understanding Tumor Heterogeneity from Single Cell Sequencing of Genomes, Transcriptomes, and Epigenomes

4:15-4:30 p.m., Room 6A, Upper Level
Presentation: Genome wide discoveries in 13,000 whole genome sequenced rare disease cases and controls.
K.E. Stirrups, Cambridge University, UK

6:15-6:30 p.m., Ballroom 20BC, Upper Level
Presentation: Iterative reanalysis provides diagnostic avenue for previously unsolved rare and complex disease cases.
M. Velinder, University of Utah, et al

Thursday, Oct. 18, 2018

9:00-10:30 a.m., Ballroom 20D, Upper Level
Session: Comprehensive Descriptions of Genetic Architecture of Rare Diseases

10:00-10:15 a.m., Room 6E, Upper Level
Presentation: Explaining gene expression: Massively parallel in-silico testing of gene expression regulators reveals large scale patterns of shared and divergent regulation across cancers and tissues.
L. Erdman, Hospital for Sick Children, et al

12:15-12:30 p.m., Ballroom 20A, Upper Level
Presentation: Uncovering pathogenic variants in the non-coding genome through the UK 100,000 genomes project.
J.M. Ellingford, University of Manchester, UK, et al

Friday, Oct. 19, 2018

9:00-9:15 a.m., Ballroom 6B, Upper Level
Presentation: Rare disease diagnosis by integrating RNA sequencing in the Undiagnosed Diseases Network.
S. Chen, Baylor College of Medicine, et al

9:45-10:00 a.m., Ballroom 6B, Upper Level
Presentation: OUTRIDER and FraseR: Statistical methods to detect aberrant events in RNA sequencing data.
C. Mertes, Technical University of Munich, et al

Saturday, Oct. 20, 2018

8:30-8:45 a.m., Room 6C, Upper Level
Presentation: Transcript expression-aware annotation increases power for rare variant discovery in Mendelian and complex disease.
B.B. Cummings, Broad Institute, et al

8:45-9:00 a.m., Room 6C, Upper Level
Presentation: Using allelic expression to extending rare disease diagnosis beyond coding mutations.
P. Mohammadi, The Scripps Institute, et al

Ongoing: Posters Open for Viewing, Exhibit Hall, Halls D-H, Ground Level
Topics: Complex Traits and Polygenic Disorders, Posters 2115-2664;
and Mendelian Phenotypes, Posters 976-1340

About the American Society of Human Genetics (ASHG)

Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide. Its nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others with an interest in human genetics. The Society serves scientists, health professionals, and the public by providing forums to: (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics; (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information, visit:

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