Dataset

Exome sequencing data

Dataset ID Technology Samples
EGAD00001003745 Illumina HiSeq 2000 11

Dataset Description

Exome sequencing fastq files from 6 mutation carriers and 5 non-carriers from 2 families. One µg DNA was used for library preparation using the TruSeq DNA LT Sample Prep Kit v2 according to the manufacturer’s instructions (Illumina). Hybridization was performed using Nimblegen SeqCap EZ Exome v3 (Roche) and Paired-end Sequencing (2x100 bp) on the Illumina HiSeq 2000 with TruSeq v3 chemistry (Illumina).

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:

DAC for MOMA, Short QT Exome data
Contact person: Kasper Thorsen
Email: kasper [dot] thorsen [at] clin [dot] au [dot] dk
More details: EGAC00001000730

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