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• Targeted sequencing data of regulatory regions in 200 Spanish ASD trios

  This study consists of genomic sequencing data obtained through targeted sequencing of regulatory regions (85,394 human cCREs from ENCODE v2, version 2, https://screenv2.wenglab.org/) in 200 ASD (Autism Spectrum Disorder) trios (father and mother unaffected and proband affected). The aim of the project is to detect genomic variants (rare and inherited variants) in regulatory regions that contribute to autism.

  Dataset EGAD50000002029

• RNA-Seq data from 34 CAF-S3 subset in human breast and ovarian cancers

  This dataset is related to publications Costa et al. Cancer Cell 2018 and Givel et al. Nat. Commun. 2018 which describe the identification of 4 Cancer Associated Fibroblasts (CAF) in breast and ovarian cancer. This dataset contains transcriptomic profiles obtained by RNA-Seq of 34 CAF-S3 samples from breast and ovarian Tumors.

  Dataset EGAD00001004810

• Single cell transcriptomics of adult human adrenal gland

  Single cell transcriptomics (10x 3') of human adrenal gland. The adrenal gland of this particular individual is characterized by the presence of mutant clone characterized by aneuploidy in chromosomes 8, 9, 13 and 22, occupying the zona glomerulosa and zona fasciculata. This dataset contains the primary sequencing data generated from the 10x genomics 3' library in fastq format.

  Dataset EGAD00001011288

• High-coverage whole genome sequencing of human populations from the Pacific

  This dataset includes high-coverage genomes (~36x) of 317 individuals from 20 populations of the Pacific (Taiwan, Philippines, Solomon Islands, Vanuatu archipelago), described in “Genomic insights into population history and biological adaptation in Oceania”, by Choin, Mendoza-Revilla, Arauna, and colleagues (Nature 2021). The data is made of 331 fastq files.

  Dataset EGAD00001006880

• Evaluation of triple negative breast cancer with heterogeneous immune infiltration

  This dataset contains the raw RNA-seq data (FASTQ files) of the samples used in the study title: "Evaluation of triple negative breast cancer with heterogeneous immune infiltration". The dataset is composed of 3 patients with 6 samples per patient (3 with high TILs and 3 with low TILs).

  Dataset EGAD00001010280

• Whole genome sequencing and whole exome sequencing of DIPG tumors and matched normal tissue

  Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment. To understand what drives DIPGs we integrated whole-genome-sequencing with methylation, expression and copy-number profiling.

  Dataset EGAD00001003305

• Bulk and single-cell RNA sequencing of LCP1-mutated patients

  This dataset contains bulk RNA-seq and single-cell RNA-seq (scRNA-seq) of bone marrow obtained from 2 patients diagnosed with severe congenital neutropenia (SCN) attributed to LCP1 mutations. This is the first dataset of its kind. Moreover, the dataset also contains scRNA-seq of bone marrow derived from a healthy control.

  Dataset EGAD00001015698

• RNA-sequencing data of post-mortem brain tissue taken from individuals with SCA3 and controls

  Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant inherited ataxia worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a polyglutamine (polyQ)-expansion in the corresponding protein. Here we have RNA-sequencing data from the cerebellum of individuals with SCA3 and matched controls.

  Dataset EGAD00001009317

• GILD-ExomeSeq-PTNHL

  This study is meant to gain further knowledge in haematological cancers. Patients samples (mainly DNAs or PCR products) from haematolocical cancer patients will be sequenced, and the outputs will be correlated to their diagnosis and/or prognosis; the findings may also add more insight into the understanding of biology in this type of tumour. We will be sequencing Primary Testicular Lymphomas (PTL) to identify genetic drivers of this rare cancer

  Dataset EGAD00001001986

• Exome sequencing data from tumor progression cohort

  This dataset, named Stockholm tumor progression cohort, contains exome-sequencing samples of matched primary and metastasis samples from 20 metastatic breast cancer patients. All patients have one or more sequenced normal samples as well. The total number of samples is 125. The dataset has been used, apart from other studies, to explore tumor evolution patterns in metastatic breast cancer at Karolinska Institute Stockholm.

  Dataset EGAD00001003837