Establishment of reference standards for multifaceted mosaic variant analysis
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DOI: 10.1038/s41597-022-01133-8
Abstract: Detection of somatic mosaicism in non-proliferative cells is a new challenge in genome research, however, the accuracy of current detection strategies remains uncertain due to the lack of a ground truth. Herein, we sought to… read more here.
Keywords: standards multifaceted; reference; establishment reference; mosaic variant ... See more keywords
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
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DOI: 10.3390/genes13030478
Abstract: Optic atrophy 1 (MIM #165500) is caused by pathogenic variants in the gene OPA1 (OPA1 MITOCHONDRIAL DYNAMIN-LIKE GTPase, MIM *605290) and is inherited in an autosomal dominant manner. We describe a 6-year-old male patient with… read more here.
Keywords: optic atrophy; variant; mosaic variant; opa1 ... See more keywords