Combined Genomic and Phenotypic Classification of Inherited and Acquired Genetic Disease with Long-Read Sequencing

This study investigates the use of paired long read genetic and epigenetic sequencing in cell type deconvolution and the identification of cellular pathologies with absent or expanded populations. The data submitted to dbGaP contains sequencing read data generated by the pooling of samples from healthy individuals, sorting by flow cytometry into the key leukocyte populations of monocytes, CD4 T cells, CD8 T cells, NK cells, B cells, in addition to primary neutrophils acquired commercially, and sequencing by a PromethION sequencer (Oxford Nanopore Technologies). This allowed for the generation of data for both purified cell populations, as well as in silico synthetic mixture of defined compositions for evaluating epigenetic methods for cell type deconvolution.

• Study Design:
  • Control Set
• Study Type:
  • Epigenetics
  • Methylation Sequencing
  • Reference Set
  • Sequencing
  • Whole Genome Sequencing
• Total number of consented subjects: 14
• Subject Sample Telemetry Report (SSTR)

• BioProject
• Sequence Read Archive

• Primary Phenotype: Healthy Volunteers
• Healthy Participants
• Healthy Subjects
• Normal Volunteers
• Leukocyte
• Neutrophils
• Monocytes
• NK Cells
• Natural Killer Cells
• T Cells
• B Lymphocytes
• Lymphocytes

• Principal Investigator
  • Owen Siggs, MD, PhD. The Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
• Funding Source
  • PF2019-040. Snow Medical, Woolloomooloo, NSW, Australia.
• Co-Investigator
  • Yves Fontaine. The Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.