Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.

ABSTRACT:

Background

Targeted sequencing approaches such as gene panel or exome sequencing have become standard of care for the diagnosis of rare and common genetic disease. The detection and interpretation of point mutations, small insertions and deletions, and even exon-level copy number variants are well established in clinical genetic testing. Other types of genetic variation such as mobile elements insertions (MEIs) are technically difficult to detect. In addition, their downstream clinical interpretation is more complex compared to point mutations due to a larger genomic footprint that can not only predict a clear loss of protein function but might disturb gene regulation and splicing even when located within the non-coding regions. As a consequence, the contribution of MEIs to disease

SUBMITTER: Demidov G 

PROVIDER: S-EPMC8683623 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature