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Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modelling

2024-01-29

Abstract excerpt

<h4>Summary</h4> Gracia-Diaz and colleagues analysed high-density DNA microarray and whole genome sequencing (WGS) data from the KOLF2.1J ‘reference’ human induced pluripotent stem cell (hiPSC) line 1 , and report the presence of five high-confidence heterozygous copy number variants (CNVs) at least 100kbp in length 2 . Since three of these CNVs span coding genes, some of which have been associated with neurode...

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Literature Corpus work
f852efdd-5043-5737-816d-adc4f87b7a73
DOI
10.1101/2024.01.29.577739
Open publication

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