Gene Variant Databases
Advances in Genomic Testing for Rare Disease Diagnostics
216 views
Over the past decade, whole-exome and whole-genome sequencing have transformed the diagnosis of patients with suspected rare genetic diseases. However, despite recent advancements, a large number of patients with rare genetic diseases remains undiagnosed for years because they have limited access to comprehensive genomic testing.
In this virtual roundtable of leading rare disease experts, panelists will discuss:
The state of clinical genomic testing at their institutions.
How recent advances in sequencing technology and data analysis, including artificial intelligence (AI), are increasing diagnostic rate.
How barriers to patient access to testing can be removed to improve the care of all people living with rare genetic diseases.
Related videos
Gene Variant Databases
Access to real-world data and 2 decades of expert curation
Across oncology applications, from research to molecular testing and...
Gene Variant Databases
Identify meaningful mutations in somatic tumor testing
From Information Overload to Actionable Insights Precision medicine is...
Gene Variant Databases
Precisely target the causes of malignancy on a molecular level
Key to precision oncology is the development of expert databases that...
Gene Variant Databases
How to simplify somatic NGS analysis & reduce literature review time by 90% with HSMD
Across clinical oncology applications, from molecular testing to cancer...