Journal article

High-throughput multiplexed tandem repeat genotyping using targeted long-read sequencing

Devika Ganesamoorthy, Mengjia Yan, Valentine Murigneux, Chenxi Zhou, Minh Duc Cao, Tania PS Duarte, Lachlan JM Coin

Published : 2019

Abstract

ABSTRACT Tandem repeats (TRs) are highly prone to variation in copy numbers due to their repetitive and unstable nature, which makes them a major source of genomic variation between individuals. However, population variation of TRs have not been widely explored due to the limitations of existing tools, which are either low-throughput or restricted to a small subset of TRs. Here, we used SureSelect targeted sequencing approach combined with Nanopore sequencing to overcome these limitations. We achieved an average of 3062-fold target enrichment on a panel of 142 TR loci, generating an average of 97X sequence coverage on 7 samples utilizing 2 MinION flow-cells with 200ng of input DNA per sample..

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University of Melbourne Researchers