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.

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Dataset

Whole Exome Sequencing of a Chinese Cataract Girl

Dataset ID	Technology	Samples
EGAD00001008267	Illumina HiSeq 2000	1

Dataset Description

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.

Data Use Conditions

PUB HMB

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Label	Code	Version	Modifier
publication required	DUO:0000019	2019-01-07
health or medical or biomedical research	DUO:0000006	2019-01-07

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

HNUCM Data Access Commitee
Contact person: Hao Liang
Email: lianghao [at] hnucm [dot] edu [dot] cn
More details: EGAC00001002361

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This dataset is featured in 1 study

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. Click on one of the Study IDs below to find out more.

Study ID	Study Title	Study Type
EGAS00001005673	Whole exome sequencing of Congenital Cataract	Other

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