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• Somatic mutations in twin breast cancers (2019-04-03)

  The aim of this study is to investigate the somatic mutations in twins with BRCA1/2 negative breast cancer with no strong family history. . This dataset contains all the data available for this study on 2019-04-03.

  Dataset EGAD00001004890

• Cram files for study entitled Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

  This dataset contains three cram files for paired end sequencing of a trio, sequenced with Illumina Hiseq 2500

  Dataset EGAD00001006578

• RNA-seq analysis of human skin

  RNA sequencing analysis comparing epidermal subpopulations in normal and inflamed skin.

  Study EGAS00001002927

• Targeted sequencing about core genes implicated in telomere biology

  We sequenced the coding exons of core genes involved in telomere maintenance using peripheral blood DNA of 192 CRC patients. The primary sequencing data were generated by using Ion Torrent Personal Genome Machine® (PGM™) platform.

  Dataset EGAD00001004096

• Quiescent Sox2+ cells drive hierarchical growth and relapse in Sonic hedgehog subgroup medulloblastoma

  Quiescent Sox2+ cells drive hierarchical growth and relapse in Sonic hedgehog subgroup medulloblastoma

  Dataset EGAD00001000818

• Chromatin Profiling in Twins (2019-08-21)

  50 lymphoblastoid cell lines of adult female Twins which are part of the MuTHER study, processed with the FAIRE assay in order to generate maps of open chromatin. . This dataset contains all the data available for this study on 2019-08-21.

  Dataset EGAD00001005273

• GATCI whole exome somatic variants (MuTect)

  Exome sequences were aligned to the GRCH38 reference genome. Aligned sequence was analyzed with GATK/MuTect, to generate somatic variant calls. Somatic variant calls are in VCF format. Details for the mutect call can be found in the vcf header.

  Dataset EGAD00001005917

• GATCI whole exome somatic variants (SomaticSniper)

  Exome sequences were aligned to the GRCH38 reference genome. Aligned sequence was analyzed with GATK/SomaticSniper, to generate somatic variant calls. Somatic variant calls are in VCF format. Details for the mutect call can be found in the vcf header.

  Dataset EGAD00001005918

• Cam_121 RNA-Seq data

  This dataset contains RNA-Seq data from 204 primary melanomas and 177 regional lymph nodes. More details can be found in the manuscript: "Tumour gene expression signature in primary melanoma predicts long-term outcomes: A prospective multicentre study"

  Dataset EGAD00001006401

• Transcriptomic profiling of the Enteric Nervous System in Hirschsprung Disease (2025-07-31)

  This study involves atlasing the development of the postnatal gut nervous system in order to elucidate the pathogenic mechanisms of Hirschsprung disease. . This dataset contains all the data available for this study on 2025-07-31.

  Dataset EGAD00001015667