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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

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Peer-reviewed

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Article

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Authors

Yaldiz, Burcu 
Kucuk, Erdi 
Hampstead, Juliet 
Hofste, Tom 
Pfundt, Rolph 

Abstract

BACKGROUND: Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. RESULTS: We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. CONCLUSION: We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques.

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Keywords

Exome sequencing, Genome sequencing, Uniformity of coverage, Humans, Exome, Exome Sequencing, High-Throughput Nucleotide Sequencing, Genome, Human, Base Sequence, DNA Copy Number Variations

Journal Title

Hum Genomics

Conference Name

Journal ISSN

1473-9542
1479-7364

Volume Title

17

Publisher

Springer Science and Business Media LLC