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• Single Cell Analysis Reveals Immune Dysfunction from the Earliest Stages of CLL that can be Reversed by Ibrutinib

  We applied single cell RNA sequencing to broadly characterize circulating immune cells co-existing with leukemic cells during natural chronic lymphocytic leukemia (CLL) progression. We used peripheral blood mononuclear cells from patients diagnosed from monoclonal B-lymphocytosis (MBL) and CLL at different time-points, and age-matched healthy donors (HDs). We analyzed the differences in cell type proportions and immune cell states between MBL/CLL patients and HDs and over time.

  Study phs002705

• Elucidation of the association between viruses and autoimmune diseases and COVID-19

  We determined the presence or absence of endogenous herpesvirus 6 (eHHV-6) and calculated annelovirus levels from whole genome sequencing of 2,238 patients with autoimmune diseases and 2,919 controls. We performed genome-wide association analysis using WGS of 22 eHHV-6B-positive cases and -negative cases. Single-cell RNA sequencing was performed using human peripheral blood mononuclear cells from 3 eHHV-6B-positive SLE patients and 5 -negative SLE patients.

  Study JGAS000741

• Using Exome-sequencing to characterize the resistance to lirafugratinib

  We characterized resistance to lirafugratinib with whole exome sequencing in patients with FGFR2-driven cancers, treated in the phase 1/2 ReFocus trial (NCT04526106) and enrolled in the UNLOCK program at Gustave Roussy

  Study EGAS50000001371

• Hipo-032 Metastasome of Colorectal Cancer

  Whole genome sequencing of Control (blood), Tumor and metastasis triplets for 12 samples.

  Dataset EGAD00001003965

• BGI study for primary and metastatic Chinese lung adenocarcinomas

  We sequenced 205 patients who were suffering NSCLC with Exome sequencing method.

  Dataset EGAD00001001398

• RNAseq BAM files

  RNAseq BAM files for Coding and non-coding mantle cell lymphoma driver mutations

  Dataset EGAD00001006268

• pilot

  Pilot study for genome-wide sequencing of cell-free DNA from nipple aspirate fluid and plasma of breast cancer patient

  Dataset EGAD00001010836

• Primary Cytotoxic T Cell Lymphomas Harbor Recurrent Targetable Alterations in the JAK-STAT Pathway

  Cytotoxic cutaneous T cell lymphomas (CTCLs) are uncommon but highly aggressive cancers of skin-homing cytotoxic T cells. These include the established World Health Organization (WHO) entity primary cutaneous gamma delta T cell lymphomas (PCGDTLs), the provisional WHO entity primary cutaneous CD8+ aggressive epidermotropic T cell lymphoma (PCAETCL), and samples that do not currently fit into a WHO category, referred to as cytotoxic CTCL-NOS (not otherwise specified). In this study, 35 CTCL cases were examined, and 9 PCAETCL cases were confirmed by CD8 expression and full-thickness epidermotropism. Whole genome sequencing (WGS) and bulk RNA sequencing were performed on these samples.  

  Study phs002499

• RNA-seq and scRNA/TCR-seq data for publication: "Pharmacological inhibition of nonsense-mediated mRNA decay enhances anti-tumour immunity"

  RNA-seq and scRNA/TCR-seq data from patient-derived fragments (PDFs) analysed in publication by R. Vendramin, H. Fu, S. Fernandez Patel, Y. Zhao et al.

  Study EGAS50000001208

• Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA.

  3784 whole genome sequencing bam files were generated from plasma cell-free DNA of healthy individuals and patients with cancer. Paired reads were mapped to hg19 human reference genome.

  Study EGAS00001006553