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What Can Go Wrong in the Non-coding Genome and How to Interpret Whole Genome Sequencing Data by Heiko Krude; Stefan Mundlos; Nancy Christine Øien; Robert Opitz; Markus Schuelke is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is What Can Go Wrong in the Non-coding Genome and How to Interpret Whole Genome Sequencing Data about?

Whole exome sequencing discovers causative mutations in less than 50 % of rare disease patients, suggesting the presence of additional mutations in the noncoding genome. So far, non-coding mutations have been identified in less than 0.2 % of individuals with genetic diseases listed in the ClinVar database and exhibit highly diverse molecular mechanisms. In contrast to our capability to sequence the whole genome, our ability to discover and functionally confirm such non-coding mutations is lagging behind severely. We discuss the problems and present examples of confirmed mutations in deep intronic sequences, non-coding triplet repeats, enhancers, and larger structural variants and highlight their proposed disease mechanisms. Finally, we discuss the type of data that would be required to establish non-coding mutation detection in routine diagnostics.

Who reads What Can Go Wrong in the Non-coding Genome and How to Interpret Whole Genome Sequencing Data?

Author

Heiko Krude; Stefan Mundlos; Nancy Christine Øien; Robert Opitz; Markus Schuelke

Publisher

Walter de Gruyter GmbH

Published

2021

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)