| Accession | PRJCA007225 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Title | Variant analysis of 92 Chinese Han families with hearing loss | ||||||||||
| Relevance | Medical | ||||||||||
| Data types | Raw sequence reads | ||||||||||
| Organisms | Homo sapiens | ||||||||||
| Description | We used targeted-NGS for genetic diagnosis of 18 NSHL probands. We identified 18 novel variants in 12 deafness genes, which enlarged the variant spectrum of deafness genes in the Han Chinese population. These findings help inform the genetic diagnosis of deafness and add to the theoretical basis for the prevention of deafness. | ||||||||||
| Sample scope | Monoisolate | ||||||||||
| Release date | 2021-11-16 | ||||||||||
| Publication |
|
||||||||||
| Grants |
|
||||||||||
| Submitter | Huafang Gao (gaohuafang@nrifp.org.cn) | ||||||||||
| Organization | National Research Institute for Family Planning | ||||||||||
| Submission date | 2021-11-16 |
| Resource name | Description |
|---|---|
| BioSample (18) show | - |