Researchers create software that can help detect genetic-based diseases

Researchers from Children’s Hospital of Philadelphia and Newark-based New Jersey Institute of Technology have created a software that can see how one change in a cell can lead to detecting genetic-based diseases, according to Dec. 13 findings published in Nature Communications. 

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The researchers developed an automated single-cell multimodal sequencing clustering software tool that can profile what is happening within the cell across multiple biological processes simultaneously. The tool can also better characterize relationships between changes in a cell.

Researchers used the tool to conduct simulation and real-data experiments and found that it outperformed existing single-cell single-modal and multimodal clustering methods on single-cell multimodal data sets. 

“With this tool, we can better understand a single cell as an entity and not just as a fragmented unit,” said Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at CHOP and a senior author of the study. “This is a significant advancement and allows us to integrate and put all of this information into biological perspective, which is particularly important when considering information on different diseases.”

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