| Literature DB >> 31649301 |
Minoru Asogawa1,2, Ayumu Ohno3, So Nakagawa3,4, Eriko Ochiai5, Yasuhiro Katahira3, Megumi Sudo3, Motoki Osawa5, Masatoshi Sugisawa6, Tadashi Imanishi7,8.
Abstract
Short tandem repeats (STRs) are repetitive DNA sequences that are highly polymorphic and widely used for personal identification in the field of forensic medicine. The standard method for determining the repeat number of STRs is capillary electrophoresis of PCR products; however, the use of DNA sequencing has increased because it can identify same-sized alleles with nucleotide substitutions (iso-alleles). In this study, we performed human STR genotyping using a portable nanopore-based DNA sequencer, the MinION, and evaluated its performance. Because the sequence quality obtained by MinION is considerably lower than those obtained with other DNA sequencers, we developed an original scoring scheme for judging the genotypes from MinION reads. Analysis of seven human samples for 21-45 STR loci yielded an average of 857 thousand reads per sample, and the accuracy of genotyping and iso-allele identification reached 75.7% and 82%, respectively. Although the accuracy is higher than that reported previously, further improvements are required before this method can be practically applied.Entities:
Mesh：
Year: 2019 PMID： 31649301 DOI： 10.1038/s10038-019-0688-z
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172