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Abstract

October - December 2024 | Vol. 17 | Issue 4 | 24-25
Novel Tools for Detecting Structural Variants: Optical Genome Mapping and More
Saswati Das
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India
Address for Correspondence Email: saswati.lef1@gmail.com
 
Abstract
Genomic inversions, segments of DNA with reversed orientation compared to the reference genome, are prevalent in human populations and vary in size. Traditional karyotyping can detect these inversions but typically misses those smaller than 10 Mb. Despite advancements in array technologies, copy-neutral structural variants (SVs), such as inversions, remain underexplored in clinical settings. This study aimed to expand the analysis to 33,924 families in the 100,000 Genomes Project (100kGP), examining genes associated with haploinsufficiency (HI). Structural variants were identified using Canvas and Manta, with prioritization of ultra-rare inversions. Ultimately, only 45 families were identified, representing 1-2% of diagnoses across 351 genes. Notable detected inversions included an intragenic MSH2 founder inversion, a complex maternally inherited structural variant, a de novo inversion in the HOXD cluster linked to Kantaputra-type mesomelic dysplasia, and an inversion with a breakpoint in intron 4 of the APC gene indicating potential gene disruption. Limitations included a focus on HI genes and potential oversight of inversions in repetitive regions.
 
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