Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders
SVs in ES-negative NDDs can be identified by OGM, which is particularly useful for SVs in non-coding regions not covered by ES. OGM helps to construct complex SVs and provides information on the location and orientation of duplications, which is crucial for pathogenicity interpretation. The integration of RNA-seq facilitates the interpretation of the functional consequences of SVs at the transcriptional level. These findings demonstrate the utility and feasibility of combining OGM and RNA-seq in ES-negative cases with NDDs.
Authors
- Yongguo Yu (ORCID: https://orcid.org/0000-0002-4472-0910)
- Xiaomei Luo (ORCID: https://orcid.org/0000-0003-1524-2574)
- Yanjie Fan (ORCID: https://orcid.org/0000-0001-7006-733X)
- Hui Ye (ORCID: https://orcid.org/0000-0002-7416-1558)
- Huili Liu (ORCID: https://orcid.org/0000-0002-5535-5015)
- Bing Xiao (ORCID: https://orcid.org/0000-0002-3736-6714)
- Yi Liu (ORCID: https://orcid.org/0009-0007-8292-3296)
Institutions
- XinHua Hospital (CN)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-09-19
- DOI
- https://doi.org/10.1186/s13073-024-01382-9
- Citations
- 12
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 6.60
Funders
- Natural Science Foundation of Shanghai
- Shanghai Municipal Health Commission
- National Natural Science Foundation of China
- National Key Research and Development Program of China