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

[en] 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.

Research center :

- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

Disciplines :

Genetics & genetic processes
Human health sciences: Multidisciplinary, general & others

Author, co-author :

Yaldiz, Burcu

Kucuk, Erdi

Hampstead, Juliet

Hofste, Tom

Pfundt, Rolph

Corominas Galbany, Jordi

Rinne, Tuula

Yntema, Helger G.

Hoischen, Alexander

Nelen, Marcel

More authors (295 more)

External co-authors :

yes

Language :

English

Title :

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

Publication date :

03 May 2023

Journal title :

Human Genomics

ISSN :

1473-9542

eISSN :

1479-7364

Publisher :

BioMed Central, United Kingdom

Volume :

Issue :

Pages :

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5

Available on ORBilu :

since 07 May 2023

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