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Rare Disease Diagnostic Odyssey and Timeline Reduction

Discussed in 1 analyzed podcast episode across 1 show

Discussed On

DNA Today: A Genetics Podcast

Episodes

DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast · May 8, 2026

#393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap

Whole Genome Sequencing as First-Tier Diagnostic Test Multi-Omic Technologies: RNA-seq, Long-Read Sequencing, Optical Genome Mapping Variants of Uncertain Significance (VUS) and Functional Validation Short Tandem Repeat (STR) Expansion Detection and Sizing Complex Structural Variant Characterization