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Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas,… Click to show full abstract
Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically‐relevant SVs in a 4‐year‐old male with an epileptic encephalopathy of undiagnosed molecular origin.
Keywords:
genome mapping;
detection mosaic;
optical genome
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
Link to full text (if available)
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recommendations!