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• FASTQ files for Recommendations to mitigate FFPE-associated problems in NGS

  42 NGS libraries of a 13y/o FFPE sample, a tissue-and-patient-matched FF sample, and a GIAB sample (NA12878). In technical replicates (untreated DNA, treated DNA, two different library types, at least library duplicates for each case). Illumina NextSeq, HiSeq and NovaSeq paired-end sequencing.

  Dataset EGAD00001008399

• The dataset for Genome-wide cell-free DNA fragmentation in patients with cancer

  The dataset for Genome-wide cell-free DNA fragmentation in patients with cancer includes 538 bam files from whole genome next-generation sequencing on the Illumina HiSeq2500. The samples analyzed include plasma samples from healthy individuals and patients with cancer.

  Dataset EGAD00001005339

• Clonal diversity analysis and inter/intra-organ heterogeneity in urothelial carcinoma under immunotherapy

  We studied a unique autopsy case of metastatic urothelial carcinoma with both sensitivity and resistance to anti-PD-1 therapy. We performed multiregional analyses of 58 paired whole exome sequencing and RNA sequencing samples of 8 different bulk tumor masses, 8 matched whole genome sequencing samples to identify structural abnormalities of each mass. Furthermore, we performed 7 whole exome sequencing from metastatic urothelial carcinoma patients who received anti-PD-1 therapy.

  Study JGAS000725

• Maternal plasma data in FetalQuantSD accurate quantification of fetal DNA fraction by shallow-depth sequencing of maternal plasma DNA

  This dataset consist on 70 maternal plasma samples (bam files) used in the FetalQuantSD. The maternal plasma DNA samples were sequenced using the HiSeq 2000 platform (Illumina) with a 50-cycle paired-end mode.

  Dataset EGAD00001004324

• Evolution of neoantigen landscape during immune checkpoint blockade in non-small cell lung cancer

  The dataset for Evolution of neoantigen landscape during immune checkpoint blockade in non-small cell lung cancer includes 17 bam files from next-generation sequencing on the Illumina HiSeq2500. The biospecimens analyzed include matched tumor pre-treatment, post-progression and normal samples.

  Dataset EGAD00001004336

• Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression

  Genome-wide studies have uncovered multiple independent signals at the RREB1 locus associated with altered type 2 diabetes risk and related glycaemic traits. However, little is known about the function of the zinc finger transcription factor Ras-responsive element binding protein 1 (RREB1) in glucose homeostasis or how changes in its expression and/or function influence diabetes risk.

  Dataset EGAD50000000515

• BLUEPRINT RNA-seq data for rare cells in the haematopoietic lineages, from adult and cord blood samples.

  RNA-seq data for rare cells in the haematopoietic lineages, from adult and cord blood samples.

  Study EGAS00001000284

• WES of germline, nevi, primary and metastatic Cutaneous Melanoma from patient 009 in CASVAC-0401 trial

  Samples: primary cutaneous melanoma (CM) non-associated or distal nevus (A); adjacent or CM-associated nevus (B); Primary-CM (C); and Lymph-Node Metastasis (LN-mts) (D). Whole-exome sequencing (WES) was performed in DNA extracted from the different samples (A-D) paired with the germline reference (G), processed with the Agilent SureSelect All Exon Human V5 Library in an Illumina Hiseq 4000 PE101 platform.

  Dataset EGAD00001009083

• 16S metagenomics on NASH patients complicated with diabetes

  16S metagenomic analysis was performed on 20 NASH patients complicated with diabetes. Sum of the several Bacteroides species was smaller in the patients treated with insulin analogues than those who did not receive insulin treatment. The results were consistent with the study performed with model mice treated with insulin.

  Study JGAS000574

• Comparison of HCC cell lines and primary HCCs

  There are concerns about whether cancer cell lines could faithfully represent the matched primary cancer cells. Comparison of the HCC cell lines and primary HCCs demonstrated that, during long-term in vitro culture, cell lines retain the genetic landscape of the matched primary HCCs.

  Study EGAS00001001678