Dataset

Aligned reads from specific genomic locations derived from Illumina HiSeqX and HiSeq2000 whole genome sequence data

Dataset ID Technology Samples
EGAD00001003513 HiSeq X Ten,Illumina HiSeq 2000 3001

Dataset Description

This dataset includes bam files from 3,001 samples. These bam files include all read pairs where at least one of the reads aligns within 1kb of the C9orf72 repeat expansion. Additionally, these bam files also contain reads that are aligned to any of 29 pre-determined off target locations where the aligners are known to mis-align reads associated with this repeat expansion. These samples were sequenced using a combination of 2x100bp reads on an Illumina HiSeq2000 and 2x150bp reads on an Illumina HiSeqX sequencer and aligned using the Isaac aligner.

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:

Project MinE – C9orf72 repeat expansions DAC
Contact person: Jan H. Veldink
Email: j [dot] h [dot] veldink [at] umcutrecht [dot] nl
More details: EGAC00001000703

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