Noncoding variants and transcripts for rare disease diagnostics

Policy briefing

Our briefing on noncoding variants and transcripts for rare disease diagnostics explores the potential of noncoding analysis to address the diagnostic gap in rare diseases.

A summary of our briefing:

  • Recent advances in genomic methods have allowed the study of the 98% of the genome previously considered as non-functional or ‘noncoding' 
  • Integrating the analysis of noncoding regions holds promise for improving rare disease diagnosis; the combination of noncoding genomics and transcriptomics offers the greatest improvement in diagnostic yield
  • Further research is needed to discover the functions of some of these ‘noncoding’ regions
  • To use noncoding genome data in clinical practice, whole genome sequencing data and total RNA-Seq data are required, along with a scale-up of data infrastructure to support data analysis

And for a bitesize explanation of the basic points of noncoding variants and transcripts, we have created an infographic that lays out the fundamentals to understanding the dark genome.

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We thank the WYNG Foundation for generously supporting this work. 

Views expressed in these documents do not necessarily reflect those of the WYNG Foundation.

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