A Software Swiss Army Knife for Genomic Data

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Swiss Army Knife for Genomic Data

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Credit: Caltech

A great way to discover what a cell is doing—whether it is outgrowing control as in cancers, or is under the control of a getting into infection, or is just tackling the regular organization of a healthy cell—is to take a look at its gene expression. Though a large bulk of cells in an organism all include the very same genes, how those genes are revealed is what triggers various cell types—the distinction in between a muscle cell and a nerve cell, for instance.

In the last years, innovations to determine gene expression in private cells have actually reinvented biology. No longer do biologists require to balance out gene expression over lots of cells within tissues; now they can spot which genes are active in each cell at any time.

Computational power has actually had a hard time to stay up to date with this surge of information, nevertheless. For example, a single experiment can take a look at 100,000 cells and determine details from numerous countless records (pieces of RNA produced when a gene is active), leading to 10s of billions of sequenced pieces. Genomic information from single-cell sequencing can use up terabytes of area and take hours or days to process on big computing servers.

Now, a brand-new software application tool allows the processing of big sets of genomic information in about 30 minutes, utilizing the computing power of a typical laptop computer. Like a Swiss Army knife, the tool can be utilized in myriad methods for various biological requirements, and will assist guarantee the reproducibility of clinical research studies.

The tool, which is offered online and open for anybody to utilize, now is being adjusted by another research study group to study the SARS-CoV-2 infection in samples gathered from evaluating tests.

The research study was performed as a cooperation in between the lab of Lior Pachter (BS ’94), Bren Professor of Computational Biology and Computing and Mathematical Sciences, and Páll Melsted, teacher of computer technology at the University of Iceland. Melsted is a co-first author in addition to college student Sina Booeshaghi (MS ’19). A paper explaining the research study appears in the journal Nature Biotechnology on April 1, 2021.

“There are many examples of different groups using different technologies to study the same tissues, for example, the brain,” states Booeshaghi. “Processing all of this data with the same engine—our technique—facilitates integrating the data. Our tool is fast, efficient, and allows for easy reprocessing, which is very important for consistency and reproducibility in science.”

Developing this complex software application tool “in-house” was necessary for it to in fact resolve prospective users’ issues, due to the fact that the prospective users were right there in the laboratory.

“The interdisciplinarity of our team was crucial to conceiving of and executing this project,” states Pachter. “There are people in the lab who are computer scientists, biologists, engineers. Sina is in the mechanical engineering department and brings the perspective of his design background and engineering; Páll has a strong background in theoretical computer science and software engineering.”

The ease-of-use, low expense, and modularity of these tools will allow constant and reproducible preprocessing of genomic information for big consortiums such as the Human Cell Atlas and the Brain Initiative Cell Census Network.

Reference: “Modular, efficient and constant-memory single-cell RNA-seq preprocessing” by Páll Melsted, A. Sina Booeshaghi, Lauren Liu, Fan Gao, Lambda Lu, Kyung Hoi (Joseph) Min, Eduardo da Veiga Beltrame, Kristján Eldjárn Hjörleifsson, Jase Gehring and Lior Pachter, 1 April 2021, Nature Biotechnology.
DOI: 10.1038/s41587-021-00870-2

The paper is entitled “Modular, fast, and constant-memory pre-processing of single-cell RNA-seq data.” In addition to Melsted, Booeshaghi, and Pachter, extra co-authors are undergraduate Lauren Liu, bioinformatics director Fan Gao, college student Lambda Lu, previous undergrad Joseph Min (BS ’20), college student Eduardo da Veiga Beltrame, previous college student Kristján Eldjárn Hjörleifsson, and postdoctoral scholar Jase Gehring. Funding was supplied by the Beckman Institute Caltech Bioinformatics Resource Center and the National Institutes of Health.