Chromosome microarray (CMA) was performed to identify a possible CNV or ROH that could be contributing to this patient's clinical phenotype. CytoScan HD arrays were performed according to the manufact
Positions refer to the reference sequence and are given relative to the ATG start codon (reference sequence: chromosome 5 contig, GenBank accession number NW_922784.1, region 23935681…23938058; contai
Found and missed SNPs out of the 66 CAPS-associated intra-individual SNPs from 62 single traces [22] by four software packages DiSNPindel, novoSNP [8], Mutation Surveyor ( http://www.softgenetics.com/
