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WES data for Family 2 from optic atrophy study

The dataset includes the BAM files from WES experiments performed on a proband presenting with syndromic optic atrophy and his healthy parents - Family 2 in our study

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Present data access policy aims to protect data confidentiality and control secondary research use

Investigators approved to download controlled-access data and their institutions are expected to abide by the following conditions for the secondary research use, further detailed in the Data Access Agreement document: • Using the data only for the approved research; • Protecting data confidentiality; • Following, as appropriate, all applicable national, tribal, and state laws and regulations, as well as relevant institutional policies and procedures for handling genomic data; • Not attempting to identify individual participants from whom the data were obtained; • Not selling any of the data obtained from EGA repository; • Not sharing any of the data obtained from EGA repository with individuals other than those listed in the data access request; • Acknowledging in all oral or written presentations, disclosures, or publications the contributing investigator(s) who conducted the original study, the funding organization(s) that supported the work, the specific dataset(s) and applicable accession number(s), and the EGA repository through which the investigator accessed any data. Investigators who are approved to use controlled-access data are expected to follow guidance on security best practices that outlines data security protections (e.g., physical security measures and user training) to ensure that the data are kept secure and not released to any person not permitted to access the data.

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
EGAS00001003850 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00002725436 bam 5.6 GB
EGAF00002729040 bam 5.3 GB
EGAF00002729041 bam 6.8 GB
3 Files (17.7 GB)