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• Mitochondrial DNA sequencing in samples of Huntington’s disease patients

  Mitochondrial dysfunction is found in the brain and peripheral tissues of Huntington’s disease (HD) patients, which connects many pathological features of HD. In this project, we conducted a large-scale study of mtDNA variations with a sensitive mtDNA-targeted sequencing method called STAMP, at a median coverage of 4000-fold, in lymphoblast and blood samples of HD patients. mtDNA sequence variations and copy numbers were compared between samples from HD patients and healthy control individuals, and were assessed in relation to HD stages, and changes of HD phenotypes in longitudinal samples.

  Study EGAS00001004092

• A distinct monocyte cellular state links systemic immune dysregulation to pulmonary impairment in long COVID

  Long COVID is a debilitating disease with a very heterogeneous disease aetiology. In this study, we collected blood from Long COVID patients and generated single-cell multiomics datasets. The samples collected were both longitudinal and cross-sectional cohorts. The aim of the study involved examining the transcriptomic and epigenetic landscape of circulating immune cells from these samples to better understand the disease imprints.

  Study EGAS50000001215

• A GWAS of Progression in Multiple Sclerosis

  This is a genome wide association study (GWAS) of disease progression in multiple sclerosis (MS). The study involved a total of 12584 cases recruited from multiple centres around the world and tested at 7.8 million common autosomal single nucleotide variants. The data from the European cases (n=4853) are included in this EGA submission in 10 country specific data sub-sets.

  Study EGAS00001007162

• Molecular Genetics of Histiocytic Sarcoma

  This is a comprehensive genomic analysis of a rare set of histiocytic sarcomas from the consult service of the Hematopathology section of the Laboratory of Pathology, NCI, NIH. The study identifies two distinct groupings of these tumors based on the site of disease, their mutational spectrum, and proliferation signature.

  Study phs001748

• Whole Genome Sequencing of Two Family Trios with 22q.11.2 Deletion Syndrome

  Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate genetic modifiers of the various phenotypes seen in 22q11DS. Both probands had a typical 3 megabase deletion on chromosome 22q11.2 but discordant phenotypes.

  Study phs000837

• Development of Precision Neoadjuvant-Adjuvant Therapies

  In clinical trials assessing neoadjuvant androgen deprivation therapy plus next-generation androgen receptor axis inhibitors, a subset of patients fail to demonstrate a complete pathologic response following treatment and radical prostatectomy. We performed exome and transcriptome analyses on laser capture microdissected foci of residual tumor from these patients.

  Study phs001399

• Genome-Wide Association Study on Calcific Aortic Valve Stenosis in Quebec (QUEBEC-CAVS)

  Calcific aortic valve stenosis (CAVS) is a common and life-threatening heart disease with no drug that can stop or delay its progression. A genome-wide association study (GWAS) on 1,009 cases and 1,017 ethnically-matched controls was performed to identify susceptibility genes for CAVS.

  Study phs001492

• Identifying aberrant splicing isoforms and potential neoantigens in non-small cell lung cancer

  To identify aberrant splicing isoforms and potential neoantigens, we performed full-length cDNA sequencing of seven non-small cell lung cancer specimens using a long-read sequencer MinION. We detected aberrant splicing isoforms using our bioinformatics pipeline and constructed a comprehensive catalogue.

  Study JGAS000245

• HCA_Genotyping_Adult_Teichmann_DNA

  This project involves a genotyping dataset generated using the UK Biobank Axiom™ Array Kit from donor samples provided by the Cambridge Biorepository for Translational Medicine (CBTM). The dataset includes high-quality genome-wide array data suitable for a broad range of research applications in genomics and translational medicine.

  Study EGAS00001008228

• Heterogeneity and evolution of DNA mutation rates in microsatellite stable colorectal cancer. Higher mutation rates (MR) in metastatic tumours

  Building on the observation that MR appears to be a unique and inheritable feature of each cancer cell, we explored whether MR is subject to selective pressure during cancer progression. These data suggest that a higher MR is selected during CRC metastatic progression.

  Study EGAS50000000147