Genetic Diagnosis & Rare Disease Virtual Symposium

The ASHG Genetic Diagnosis & Rare Disease Virtual Symposium will focus on rare genetic diseases, their clinical diagnosis, and the current/emerging technologies to understand them. The presentations will cover the diagnosis of rare diseases, from detecting difficult structural variation (such as intrachromosomal inversions) to approaches for reducing time-to-diagnosis with novel, integrative genomic methods.

All times listed below in Eastern USA.

Schedule

Day 1, December 2

10-11:30 am, Inversions in Rare Disease

Segments of DNA with altered sequenced orientation compared to the reference genome are inversions. These structural rearrangements, which can drive rare disease, can be difficult to detect. In this session, we'll discuss approaches to their detection, their molecular characteristics, features of inversion haplotypes, and their consequences in complex rearrangements.

11:30 - 1pm

Coming Soon!

Day 2, December 3

10-11:30 am, Diagnostic Approaches in the UDN

Individuals with rare, complex genetic diseases may spend years searching for a genetic cause of their condition (diagnostic odyssey). This session will cover approaches to shortening time-to-diagnosis. We'll discuss RNA-Seq diagnosis after failed genomic trio analysis, federated variant matching between patients, CAP/CLIA-certified RNA-Seq as a diagnostic, and profiling the epigenome with long-read sequencing.

11:30 - 1pm, Integrating Different 'Omics Data Sources

Technology has allowed us to assay many different aspects of cellular state, from genome sequence to proteomics to environmental exposure. This session will cover methods for integrating these different data sources into a coherent picture. We'll discuss challenges of integration (such as batch effects), how multi-omics can improve disease surveillance, the importance of community partners in multi-omics studies, and approaches to integrating environmental exposure with multi-omics data.