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Analysis of Tandem Repeat Expansions Using Long DNA Reads.

In Methods in molecular biology (Clifton, N.J.)

Abnormal expansion or shortening of tandem repeats can cause a variety of genetic diseases. The use of long DNA reads has facilitated the analysis of disease-causing repeats in the human genome. Long read sequencers enable us to directly analyze repeat length and sequence content by covering whole repeats; they are therefore considered suitable for the analysis of long tandem repeats. Here, we describe an expanded repeat analysis using target sequencing data produced by the Oxford Nanopore Technologies (hereafter referred to as ONT) nanopore sequencer.

Mitsuhashi Satomi, Frith Martin C

2023

Long read sequencer, Nanopore sequencer, Repeat expansion diseases, Tandem repeat