Automated Author ProfileHuihua.Rao
The Medical Genetic Center of Jiangxi Maternal and Child Health Hospital, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control
Huihua.Rao
Current S-Index
Sum of Dataset Indices for all datasets
Average Dataset Index per Dataset
Average Dataset Index per dataset
Total Datasets
Total datasets for this author
Average FAIR Score
Average FAIR Score per dataset
Total Citations
Total citations to the author's datasets
Total Mentions
Total mentions of the author's datasets
S-Index Interpretation
The S-Index (Sharing Index) is a comprehensive metric that represents the cumulative impact of all your datasets. It is calculated as the sum of Dataset Index scores across all your claimed datasets.
What it means:
- A higher S-index indicates greater overall impact of your datasets relative to typical datasets in their fields of research
- The S-Index grows as you add more datasets or as existing datasets gain more citations and mentions
- It provides a single number to track your research data impact over time
Current S-Index: 2.3 (sum of 1 dataset Dataset Index scores)
More information here.
S-Index Over Time
Cumulative Citations Over Time
Cumulative Mentions Over Time
Datasets
To explore the clinical practicability of optical genome mapping in accurate detection of cryptic chromosomal balanced translocations (CBRT). A retrospective analysis was conducted on patients that visited the Jiangxi Maternal and Child Health Hospital from May 2023 to April 2024 and underwent copy number variation testing of embryos. OGM was performed on four couples with detected deletions/duplications in miscarried embryos but no abnormalities in karyotyping, and Nanopore sequencing was used for validation. OGM successfully detected four cases of CBRT, with the minimum size of translocation fragments reaching 46.86kb, of which, a t(2;6)(q37.3;q25.3) was detected using the T2T genome reference, not the GRCh38 reference. In addition, we identified four genes that were possibly disrupted by breakpoints, namely LINC01881、TRIM67、NECTIN1、CTAGE10P, which were verified by sequencing. In conclusion, optical genome mapping can accurately detect CBRT and locate the position of breakpoints. With the improvement of human reference genome and the reduction of cost, OGM will be more and more widely used in clinical practice.
Authors
- Huihua.Rao ;
- Wan.Lu ;
- Jihui.Zhou ;
- Cuiting.Wu ;
- Huizhen.Yuan ;
- Bicheng.Yang ;
- Ping.Zhou