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• CMF RNA sequencing

  RNA sequencing will be undertaken to reconstruct rearrangements at level of transcription to determine pathogenomic genomic events in chondromyxoid fibroma.

  Dataset EGAD00001000824

• T19_Yemen

  Sequencing of 50 individuals from Yemen to study the demographic history of the region

  Study EGAS00001002083

• T19_Chad_xten

  Sequencing of 8 individuals from Chad to study the demographic history of the region

  Study EGAS00001002082

• Single cell RNA-sequencing (scRNA-seq) of the human hematopoietic stem cell compartment (CD34+CD38-CD45RA-)

  To identify a trajectory of human hematopoietic stem cell (HSC) activation single cell gene expression profiling of RNA from human HSC was performed by flow cytometry-based single cell deposition of CD34+CD38—CD45RA—cells from G-CSF-mobilized peripheral blood from 3 individual donors and 1 bone marrow donor in concert with single cell index-sorting (signals indexed: CD34, CD38, CD45RA, CD90, CD49f) and followed by SMARTseq2 based protocol. We show that INKA1 and CDK6/PAK4 expressing single cells segregate across alternative states of quiescence.

  Study EGAS00001004769

• Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing

  To inform on oncogenic drivers, mutational signatures and perturbed pathways in HGBL-DH/TH in comparison with diffuse large-B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL), we performed whole-exome sequencing and confirmatory deep panel NGS of 47 clinically annotated cases. Coupled germline DNA was analyzed when available.

  Study EGAS00001005420

• Genome Wide Association Study of Asthma

  This data forms part of an ongoing genome wide association study into the genetic variants that predispose to pediatric asthma at the Children's Hospital of Philadelphia (CHOP). All cases and controls were recruited at CHOP and genotyped at the Center for Applied Genomics (CAG). The data set includes 793 cases and 1988 controls. The inclusion criteria to this case control study are detailed below.

  Study phs000233

• Determination of the molecular nature of the Vel blood group by exome sequencing

  The genetic basis of the Vel group is yet to be determined. We have collected DNA samples from about 90 Vel negative blood donors by phenotyping 270,000 donors. Understanding the genetic basis of the Vel group could have clinical significance as transfusion of Vel positive blood to Vel negative recipients with anti-Vel can cause severe and acute haemolytic transfusion reactions.

  Study EGAS00001000069

• BRAF_and_MEK_resistant_cell_line_clones

  The Sanger Institute has the largest collection of genetically-characterised cancer cell lines world-wide (we have collected >1000 human cancer cell lines which are being screened against >400 cancer therapeutics (http://www.sanger.ac.uk/genetics/CGP/translation). These lines have been characterized to the level of gene copy number, gene expression and cancer gene mutation sequence data. This has enabled us to select melanoma lines with varying BRAF mutational status and that show sensitivity to a range of BRAF inhibitors. Sensitive lines are being used to generate resistant clones by serial exposure to increasing concentrations of BRAF and MEK inhibitors and these are being characterised by genome-wide copy number analysis as well as by whole exome sequencing.

  Study EGAS00001000172

• Liver_Tumours_WGS

  The aim of this study is to define the mutational landscape of human liver tumours.

  Study EGAS00001003446

• Single_cell_RNA_sequencing_of_rhabdomyosarcoma_tumour_tissue

  The aim of this study is to investigate the genomic landscape of human cancer.

  Study EGAS00001008271