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• Whole-exome sequencing of acute erythroid leukemia

  To clarify the genomic characteristics of acute erythroid leukemia (AEL), 24 AEL cases with matched controls were analyzed using whole exome sequencing. Based on the patterns of genetic alterations, AEL were divided into 4 subgroups. EPOR/JAK/STAT pathway are frequently affected in AEL and could be a therapeutic target.

  Study EGAS00001003696

• Targeted sequencing of patients affected by familial or sporadic Alzheimer's disease

  The study aimed at identifying variants related to familial cases of Alzheimer's disease by comparing the mutational state of approximately 4000 genes associated to many known diseases ("clinical exome") in members of a family (n=7) of with members with dementia (n=2) and unaffected members (n=5)

  Study EGAS00001003856

• WGBS analysis corresponding to representative cases of iBCP-ALL patients

  In this study, we performed whole genome bisulfite sequencing (WGBS) to characterize the methylome of representative iBCP-ALL cases from the Interfant study discovery cohort, including 2 pools of B-cell progenitors from healthy donors, 2 MLL-AF4+, 2 MLL-AF9+ and 2 non-MLLs from iBCP-ALL patients.

  Study EGAS00001003650

• Single-cell TCR sequencing of DQ2.5-hor-3-specific T cells

  In order to characterize the T cell receptor (TCR) repertoire of DQ2.5-hor-3-specific T cells, we performed high-throughput DNA sequencing of rearranged TCR-α and TCR-β genes of the single HLA-DQ2.5:DQ2.5-hor-3- tetramer binding CD4+ T cells isolated from biopsies of celiac disease patients. We also sequenced the TCR of the T-cell clones (TCCs) that were generated by cloning by limited dilution and antigen-free expansion of HLA-DQ2.5:DQ2.5-hor-3-tetramer binding CD4+ T cells from biopsies of celiac disease patients.

  Dataset EGAD00001005048

• B and T Cell Determinants of Influenza Vaccine Responses in the Elderly

  The study sequenced antibody heavy chain gene rearrangements from human subjects receiving influenza vaccination.

  Study phs000666

• Nurminen et al ("GP2Men") Study Primary and Metastatic Prostate Cancer Whole Genome Sequence Data

  We used novel processing techniques to obtain whole genome data together with 3D anatomic and histomorphologic analysis in two men (GP5 and GP12) with high risk PrCa undergoing radical prostatectomy. A total of 22 whole genome-sequenced sites (16 primary cancer foci and 6 lymph node metastatic) were analyzed using evolutionary reconstruction tools and spatio-evolutionary models. Probability models were used to trace spatial and chronological origins of the primary tumor and metastases, chart their genetic drivers, and distinguish metastatic and non-metastatic subclones.

  Study EGAS50000000005

• Whole-Exome Sequencing in Mexican Patients with Testicular Germ Cell Tumors

  In this study, we performed whole-exome sequencing in 40 clinically well-characterized Mexican patients with testicular germ cell tumors. Paired tumor and peripheral blood samples were analyzed to characterize the genomic landscape, including both single nucleotide variants (SNVs) and copy number variations (CNVs).

  Study EGAS50000001721

• Investigating differential diagnostic and prognostic biomarkers in primary cutaneous follicle center lymphoma and follicular lymphoma using low-coverage whole-genome sequencing

  In this study, we analyzed 28 primary cutaneous follicle center lymphoma samples from 20 patients and compared the copy number profiles to a cohort of diagnostic samples of 64 nodal follicular lymphoma patients using low-coverage whole genome sequencing (lcWGS).

  Study EGAS50000000141

• Array-based DNA methylation analysis in blood from patients with Snijders Blok–Campeau syndrome (CHD3)

  DNA methylation array data generated using the Illumina Infinium MethylationEPIC BeadChip (v1.0 and v2.0) from whole-blood DNA of patients with Snijders Blok–Campeau syndrome (ORPHA:599082). Raw IDAT files were generated to identify differentially methylated regions in typical and atypical patients.

  Study EGAS00001008414

• Human_primary_melanoma_project

  Mutational burden and profiles to be studied in approx. 500 human primary melanomas with matched normal samples, part of the Leeds melanoma cohort. New custom design targeted capture panel covering melanoma-specific copy number alterations, promoter mutations, gene fusions, coding genes, HLA regions and IFNg/JAK/STAT pathway genes.

  Study EGAS00001002409