A holistic approach to maximise diagnostic output in trio exome sequencing

• Main Authors: Sandra von Hardenberg (Author), Hannah Wallaschek (Author), Chen Du (Author), Gunnar Schmidt (Author), Bernd Auber (Author)
• 格式: 图书
• 出版: Frontiers Media S.A., 2023-05-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

IntroductionRare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants that are identified in the index patient in WES, pare...