The impact of research on variant interpretation
Research informs variant interpretation. The tools and data resources used for variant interpretation are all developed from research endeavours that involve rare disease patients. These participants offer their clinical information and biological samples to enable research that improves our understanding of the causes of rare diseases and improves the resources used for variant interpretation.
It is important to note that underserved populations are also underrepresented in research endeavours, and this creates unique barriers to access and resources for variant interpretation.
In this video, researchers discuss some of the barriers faced in Africa and other low-middle income settings in their endeavours to ultimately achieve equitable healthcare access to all populations across the world, why research in underserved populations is important and highlight the benefits of collaboration.
Do you face similar challenges and barriers in your region? Use the comments to share your thoughts with other learners.
Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations
Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations
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