Genomics

Dataset Information

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53ec8527-2eaf-41b1-8781-c1eded8dc9ec - samples

ABSTRACT: 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.

PROVIDER: EGAD00001005758 | EGA |

REPOSITORIES: EGA

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Publications

Genetic linkage analysis of a large family identifies <i>FIGN</i> as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension.

Puigdevall Pau P   Piccari Lucilla L   Blanco Isabel I   Barberà Joan Albert JA   Geiger Dan D   Badenas Celia C   Milà Montserrat M   Castelo Robert R   Madrigal Irene I  

Journal of medical genetics 20190320 7

<h4>Background</h4>Mapping the genetic component of molecular mechanisms responsible for the reduced penetrance (RP) of rare disorders constitutes one of the most challenging problems in human genetics. Heritable pulmonary arterial hypertension (PAH) is one such disorder characterised by rare mutations mostly occurring in the bone morphogenetic protein receptor type 2 (<i>BMPR2</i>) gene and a wide heterogeneity of penetrance modifier mechanisms. Here, we analyse 32 genotyped individuals from a  ...[more]

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