Data Entry Maintenance

Metadata Commons Identifier

HMC000077

Project Title

Simultaneous Genetic and Epigenetic Analysis with Biomodal Duet Multiomics Solution +modC

Project Description

One challenge in precision medicine is limited DNA availability making it challenging to construct representative libraries for (epi)genomic measurements. The biomodal duet multiomics solution +modC allows for the quantitative measurement of genotype and modified cytosines simultaneously from a single DNA sample. In this study, we applied the Biomodal multiomics assay to DNA extracted from two primary pre-treatment synovial sarcoma (SyS) tumors (related metadata: HMC000061) (80ng of input gDNA) and six cell-free DNA samples (cfDNA) (20ng of input cfDNA). Following library construction, the indexed libraries were pooled together and sequenced on NovaSeq 6000 S4 chip. To benchmark the performance of the biomodal assay, we compared the resulting CpG calls to our inhouse post bisuflite adapter ligation (PBAL) method capable of generating bisulfite libraries down to a single cell (Hui et al., 2018). We also have compared WGS (somatic variant SNVs) and dbSNPs with biomodal data.

Project Funder(s)

biomodal, illumina

Project Institution(s)

University of British Columbia

Project Investigator(s)

Martin Hirst

Data Access Request URL*

Keywords

multiomics; genotype; DNA methylation; cell-free DNA; allelic-specific methylation

Publication Link

Study Completed

Cohort Name

Biomodal Hirst pilot project

Cohort Size

Disease/Condition Studied

synovial sarcoma, cancer

Enrollment Time Window

Biobanking Consent Available

Medical History Available

Ethnicity Availability

Time Course

Patient Phenotypes

Patient Outcomes

Clinical Data Types Available

Time Course Data Points

Enrollment City

Groups

Project

Cohort

Enrollment City

Groups

Samples and Omics