Convergent Genomics

Development of Convergent Genomics

Convergent genomics is derived from concepts in systems biology where multiple lines of evidence are used to build holistic models of biology. One of the most formalized concepts of convergent genomics is convergent functional genomics, which integrates findings from GWAS and expression data to prioritize canidate disease SNPs. Similar data is used in eQTL studies, in which specific SNPs are associated with transcription regulation.

In the Developmental Genome Anatomy Project (DGAP), we often identify novel genes that have not been identified with the disease observed in our human subjects. In order to gain confidence in the gene-disease association, we are developing convergent genomic techniques. Essentially, we use multiple lines of genomic evidence (e.g., GWAS, population CNV and familar NGS) to establish burden analysis for disease association with gene variation against the null hypothesis. The power of this technique has grown as more genomic data is becoming publically available and has allowed us to extend the findings in DGAP to population-wide disease.

 

 

NGCN - Molecular Nomenclature for Chromsomal Abnormalities

One major drawback to Convergent Genomics is the inability to integrate data across different genetic platforms (e.g., cytogenetics banding with NGS variants). Common ground, especially common languages, must to developed to ensure that information is not lost or misunderstood and is the essence of the Global Alliance for Genomics & Health.

In the Morton Laboratory, we have developed Next-Generation Cytogenetic Nomenclature (NGCN) to describe chromosomal structural variants at the molecular level [PMID: 24746958]. This allows us to describe cytogenetics at the same levels as sequencing and the ability to integrate data across these disparate platforms. This process has been automated with the development of BOSToN, an online and downloadable GUI that simplifies the nomenclature process.