Whole Exome Sequencing of a Chinese Cataract Girl
Whole exome sequencing of a Chinese girl with congenital cataract. The dataset contains one sample with two fastq files. The novel PAX6 mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) interactively aggravates this process.
- 1 sample
- DAC: EGAC00001002361
- Technology: Illumina HiSeq 2000
- HMB DUO:0000006 (version: 2019-01-07)health or medical or biomedical researchThis data use permission indicates that use is allowed for health/medical/biomedical purposes; does not include the study of population origins or ancestry.
- PUB DUO:0000019 (version: 2019-01-07)publication requiredThis data use modifier indicates that requestor agrees to make results of studies using the data available to the larger scientific community.
HNUCM DAC to consent for use.
This primary category consent code indicates that use is allowed for health/medical/biomedical purposes; does not include the study of population origins or ancestry.
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001005673 | Other |