Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

Abstract Background Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Studies showed that some aberrant splicing variants, which are either not...

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Bibliographic Details
Main Authors: Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu, Xiaodong Wang
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Medical Genomics
Subjects:
Trio-WES
Aberrant splicing
Synonymous variant
Intronic variant
Undiagnosed rare diseases
Minigene
Online Access:https://doi.org/10.1186/s12920-021-01008-8

Internet

https://doi.org/10.1186/s12920-021-01008-8

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