Fig. 1
From: A novel deletion mutation in the LPA gene in a middle-aged woman with ischaemic stroke
Identification of a heterozygous exonic deletion in the LPA gene of the patient. Genomic DNA extracted from external blood was subjected to NGS with a gene panel targeting 446 genes related to hereditary cardio-cerebrovascular diseases based on OMIM. Sequenced reads were mapped to the reference version of the human genome hg19 after the removal of the adapters and the low-grade reads. Large exon deletions and replications were screened by an internally developed overlay-based algorithm and eCNVscan. A heterozygous deletion of exons 3–16 covering KIV2 CNVs was identified