Dataset

VCF file from 16 carriers of the BMPR2 p.Arg491Gln mutation in a family affected by HPAH

Dataset ID Technology Samples
EGAD00001005758 Illumina HiSeq 4000 16

Dataset Description

VCF file from 16 carriers of the BMPR2 p.Arg491Gln mutation in a family affected by hereditary pulmonary arterial hypertension (HPAH). Whole genome sequencing of these samples was performed in an Illumina HiSeq 4000 instrument. Libraries were prepared using the Fisher PE Kit (Kapa Biosystems). BAM files were processed at the CNAG (Barcelona) with their pipeline, including GATK v3.6 for genotyping and other tools such as snpEff for annotating variants, to produce this VCF file with a total of 9,643,070 variants, out of which 7,891,370 are SNVs.

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:

HPAH Barcelona Study
Contact person: Irene Madrigal
Email: imadbajo [at] clinic [dot] cat
More details: EGAC00001001057

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