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

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

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 (...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2023-05-01
Series:Human Genomics
Subjects:
Exome sequencing
Genome sequencing
Uniformity of coverage
Online Access:https://doi.org/10.1186/s40246-023-00485-5

Internet

https://doi.org/10.1186/s40246-023-00485-5

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