Details

Autor(en) / Beteiligte

• Yagasaki, Kayoko
• Nishida, Nao
• Mabuchi, Akihiko
• Tokunaga, Katsushi
• Fujimoto, Akihiro

Titel

Development of a novel microarray data analysis tool without normalization for genotyping degraded forensic DNA

Ist Teil von

• Forensic science international : genetics, 2023-07, Vol.65, p.102885-102885, Article 102885

Ort / Verlag

Netherlands: Elsevier B.V

Erscheinungsjahr

2023

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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. •Evaluation study of microarray SNP genotyping for degraded DNA was performed.•SNP profile derived from degraded DNA contained many false heterozygous SNPs.•Noise signals could be genotype-called in microarray SNP genotyping for degraded DNA.•We developed a novel microarray data analysis method without normalization (nMAP).•The nMAP genotyping method would help contribute to effective crime investigation.