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• GWA Study of Oral Cavity, Pharynx and Larynx Cancers in European, and North and South American Populations - CIDR

  There is striking geographical variation in head and neck cancer (HNC) incidence globally. Some of the highest incidence rates have been observed in Southern and Eastern Europe and South America. The goal of this project is to assess susceptibility loci across and within ancestral backgrounds, using the All of Us array. Ten studies have come together in this initiative.

  Study phs002503

• Elucidating Mechanisms of the Graft versus Leukemia Effect of Hematopoietic Stem Cell Transplant for Acute Myeloid Leukemia

  Donor lymphocyte infusion (DLI) is an established mode of adoptive cellular therapy for treatment of relapsed disease after allogeneic hematopoietic stem cell transplantation (HSCT). For patients with acute myeloid leukemia (AML), the response rate to DLI is only 20%. Here we use next generation sequencing technologies to understand the transcriptomic and immunologic features associated with response or resistance to therapy.

  Study phs003630

• Viral integration analysis of hepatocellular carcinoma using virus capture sequence.

  Hepatitis B viral (HBV) DNA is frequently integrated into the genome of hepatocellular carcinoma (HCC) in patients with chronic HBV infection (chronic HBV, hereafter), whereas it is yet to be clarified in patients after HBV disappearance (prior HBV, hereafter). This study aimed to identify viral integration such as HBV and adeno-associated virus type 2 (AAV2) into the HCC genome as oncogenic event.

  Study JGAS000194

• Whole genome sequencing data of paediatric hyperdiploid acute lymphoblastic leukemia

  The hyperdiploid (HeH) subtype with 51–67 chromosomes is the most common subtype in childhood, presented in 25–30% of the cases, and is associated with excellent prognosis . The HeH subtype harbors relatively few additional genetic alterations, suggesting that extra chromosomes are the driving event for leukemia onset. Secondary hits usually affect the RAS signaling pathway and histone modifiers.

  Study EGAS50000001690

• Diverse modes of genomic alterations in hepatocellular carcinoma

  Hepatocellular carcinoma is the most prevalent type of liver cancer. We intended to study the genomic landscape of this disease. We conducted whole-genome, exome and transcriptome sequencing for 42 patients. We show diverse modes in which the HCC genome is affected in these patients, including well-known and novel mutations, structural variations, and Hepatitis B-virus integration into the genome.

  Study EGAS00001000824

• Genomic and transcriptomic profiling of signalling networks in follicular lymphoma

  This dataset is composed of sequencing data from 16 patients diagnosed with follicular lymphoma, who developed transformed disease and for whom representative frozen tumor biopsy samples were available. For 14 patients there is paired material from both disease stages. DNA and RNA libraries were constructed and captured with a kinome bait library (Agilent Technologies), before sequencing on an Illumina platform.

  Study EGAS00001002175

• Total RNAseq in the sporadic ALS and healthy control motor cortex

  Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of upper and lower motor neurons leading to progressive muscle weakness, wasting and paralysis that result in death within a few years from disease onset. In order to characterize RNA alterations in ALS, total RNAseq was performed in the ALS motor cortex, which is an early and vulnerable region in ALS.

  Study EGAS00001004286

• De_novo_mutations_in_cell_free_foetal_DNA__cffDNA_

  This project is to develop and validate a method to detect de novo mutations in a foetal genome through deep sequencing of cell-free DNA from the plasma of pregnant women.This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

  Study EGAS00001000322

• Renal_Follow_Up_Series

  This study's purpose is to use data generated in Renal whole genome and exome Cancer sequencing to target specific areas in multiple other Renal Cancer samples. These areas will then be subjected to bespoke pull downs, tagged and then pool the resultant amplicons. These amplicons will then be sequenced. This is hoped to show the prevalence of previous findings in multiple individuals in a high throughput method.

  Study EGAS00001000095

• PAH sequencing study

  The Cohort study of idiopathic and heritable PAH is an observational, prospective and longitudinal study of patients with idiopathic and heritable PAH. Follow-up information is collected as a part of routine clinical care every six months. The study allows recruitment of both incident and prevalent cases. Patients consented to the study agreed to have blood taken for next-generation sequencing and other omics studies.

  Study EGAS00001005532