| Submission | GVM001237 2025-12-05 Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine |
| Organism | Homo sapiens |
| Version | GRCh37 |
| BioProject | PRJCA052720 |
| Sample numbers | 168 |
| Abstract | This dataset contains phenotypic description and genomic variation data derived from Whole Exome Sequencing (WES) of individuals with suspected rare genetic disorders. The cohort was recruited from clinical centers in China (including Shanghai and Hunan provinces) to support research into the molecular diagnosis of rare diseases. |
| Data Accessibility: | Controlled access |
| Release date | 2026-12-15 |
| Available data | |
| data submitter: fanyanjie13@163.com | |
| XH_001_with_gene.vcf.gz | |
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| XH_166_with_gene.vcf.gz | |
| XH_167_with_gene.vcf.gz | |
| XH_168_with_gene.vcf.gz | |
