Article

Array Comparative Genomic Hybridisation and Droplet Digital PCR uncover recurrent copy number variation of the titin segmental duplication region

2022-03-21

Abstract excerpt

Intragenic segmental duplication regions are potential hotspots for recurrent copy number variation and possible pathogenic aberrations. Two large sarcomeric genes, nebulin and titin, both contain such segmental duplication regions. Using our custom Comparative Genomic Hybridization array, we have previously shown that a gain or loss of more than one copy of the repeated block of the nebulin triplicate region cons...

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Literature Corpus work: b79f2eae-3424-5d32-a564-a3a31db05d2f
DOI: 10.1101/2022.03.16.22272470

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