基因分型
规范化(社会学)
SNP阵列
SNP基因分型
法医学
基因型
SNP公司
单核苷酸多态性
计算生物学
基因芯片分析
DNA微阵列
生物
遗传学
数据挖掘
计算机科学
基因
社会学
基因表达
人类学
作者
Kayoko Yagasaki,Nao Nishida,Akihiko Mabuchi,Katsushi Tokunaga,Akihiro Fujimoto
标识
DOI:10.1016/j.fsigen.2023.102885
摘要
Since the arrest of the Golden State Killer in the US in April 2018, forensic geneticists have been increasingly interested in the investigative genetic genealogy (IGG) method. While this method has already been in practical use as a powerful tool for criminal investigation, we have yet to know well the limitations and potential risks. In this current study, we performed an evaluation study focusing on degraded DNA using the Affymetrix Genome-Wide Human SNP Array 6.0 platform (Thermo Fisher Scientific). We revealed one of the potential problems that occur during SNP genotype determination using a microarray-based platform. Our analysis results indicated that the SNP profiles derived from degraded DNA contained many false heterozygous SNPs. In addition, it was confirmed that the total amount of probe signal intensity on microarray chips derived from degraded DNA decreased significantly. Because the conventional analysis algorithm performs normalization during genotype determination, we concluded that noise signals could be genotype-called. To address this issue, we proposed a novel microarray data analysis method without normalization (nMAP). Although the nMAP algorithm resulted in a low call rate, it substantially improved genotyping accuracy. Finally, we confirmed the usefulness of the nMAP algorithm for kinship inferences. These findings and the nMAP algorithm will make a contribution to the advance of the IGG method.
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