Skip to main content
Fig. 2 | BMC Medical Genomics

Fig. 2

From: BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers

Fig. 2

The performance of ASA bead chip in terms of SNP and CNV analysis. a SNPs distribution of ASA and Karyomap-12 bead chips. MAF: minor allele frequency. b A 5.3Mbp deletion in cell line gDNA and its single cell MDA products. Black arrows indicate the 5.3Mbp deletion in chr18. B allele frequency (BAF, genotyping information) represented by blue dots. Smoothed log R ratio represented by a red line. In addition, there is an ideogram of the chromosome, found and known regions, information from the DGV (Database of Genomic Variants), and gene information. c 136 ASA and Karyomap-12 bead chip data on the CNV performance for CCS. % Defect: Score given to each sample based on the number of detected regions. This value is the sum of the length of all detected regions per sample divided by the length of the genome. LogRDev: Standard deviation of the log R ratios of the sample. Sample type: 52 genome DNA and 84 MDA products

Back to article page