دورية أكاديمية
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
| العنوان: | Twist exome capture allows for lower average sequence coverage in clinical exome sequencing |
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| المؤلفون: | Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium |
| المصدر: | Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023) |
| بيانات النشر: | BMC |
| سنة النشر: | 2023 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | Exome sequencing, Genome sequencing, Uniformity of coverage, Medicine, Genetics, QH426-470 |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1479-7364 |
| العلاقة: | https://doi.org/10.1186/s40246-023-00485-5Test; https://doaj.org/toc/1479-7364Test; https://doaj.org/article/e9e98a6b1dd24902a3e20ff89294d975Test |
| DOI: | 10.1186/s40246-023-00485-5 |
| الإتاحة: | https://doi.org/10.1186/s40246-023-00485-5Test https://doaj.org/article/e9e98a6b1dd24902a3e20ff89294d975Test |
| رقم الانضمام: | edsbas.13C2C192 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14797364 |
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| DOI: | 10.1186/s40246-023-00485-5 |