Abstract
We asked members of our board to reflect on 5 years of Cell Genomics and provide comments regarding the journal.
We asked members of our board to reflect on 5 years of Cell Genomics and provide comments regarding the journal.
Main text
Atlas-scale genomics links genetics, disease, and AI
Sarah Teichmann
Cambridge Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge
Department of Medicine, University of Cambridge
It has been a pleasure to work with the amazing team at Cell Genomics over the years in multiple capacities: as an advisory board member, author, and reviewer. Laura Zahn has taken the journal from strength to strength, and in particular, it’s a delight to see the many papers on cell atlasing and integration with genetics and disease datasets. Our recent paper on the development of COVID-19 in a subpopulation of co-morbid patients was a fantastic publication experience. The recent papers on statistical enrichment and deep learning analyses of single-cell (multi)omics data with GWASs and other genetic datasets are nice examples of how atlas-scale data can generate mechanistic insights into human eye and immune biology and disease. It’s awesome to have a journal that supports a broad diversity of genomic science coupled with cutting edge data science and AI methods. Happy 5th birthday, Cell Genomics, and congratulations to the whole team!
Ancient DNA informs conservation and human health
Beth Shapiro
Department of Ecology and Evolutionary Biology, University of California, Santa Cruz
Serving on the board of Cell Genomics has provided a vantage point on where genomics is expanding, particularly in ancient DNA and conservation genomics. These fields have advanced enormously during the journal’s lifetime, moving from reconstructing single genomes to using an expanded toolkit to investigate new questions, often with direct real-world impact. One example combined historical and modern sequencing to reveal that the surviving island population of kākāpō carries fewer harmful mutations than the now-extinct mainland population once did. This finding has direct consequences for how the species is managed going forward. Another traced 10,000 years of immune system evolution across thousands of ancient European genomes, using the deep past to explain disease risk in living populations today. I find these papers most exciting: those where ancient genomes stop being a historical record and start functioning as working data for present-day questions. Cell Genomics has taken this kind of work seriously, even when it falls outside the usual human disease or model organism mold, which has been genuinely energizing to watch as a reviewer, author, and board member.
Where I’d like to see the journal go next is further into the intersection where genomics engages directly with conservation, biodiversity, and the harder ethical questions that come with these tools. A broad-scope journal like Cell Genomics can provide a genuine service by publishing work that illuminates such discussions.
Inclusive genomics expands global human diversity
Neil A. Hanchard
Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health
It is hard to believe that 4 years have passed since I first met with now Editor-in-Chief Laura Zahn to discuss the new Cell Press journal she was leading. I remember a wide-ranging conversation about what a human geneticist would hope to find in a leading genomics journal. As a member of the editorial board, it has been a distinct pleasure to watch Cell Genomics grow into that journal. I have especially valued the commitment to the full breadth of genomics—human and beyond—and to work ranging from technical and methodological advances to novel trait associations (even if “novel” remains a four-letter word at Cell Press), conceptual frameworks, and integrated multi-omics studies. I have also appreciated the accessibility and engagement of the editors; they are genuinely interested in discussing forthcoming work and remain thoughtfully involved throughout the review process.
As a human geneticist, I have been particularly grateful for the journal’s commitment to research that reflects the diversity of human populations, including studies involving historically underrepresented populations, countries, and communities. Profound gaps in our knowledge remain, and closing them will require sustained commitment from the entire field. I hope that Cell Genomics will continue to help close these gaps by providing a visible and welcoming home for research that broadens the scope and global relevance of genomics, while preserving the intellectual breadth, editorial engagement, and sense of community that have distinguished its first 5 years.
Global standards enable responsible genomic sharing
Heidi Rehm
Center for Genomic Medicine and Department of Medicine, Massachusetts General Hospital
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
Broad Clinical Laboratories, Pathology, Harvard Medical School
Five years ago, the leadership and membership of the Global Alliance for Genomics and Health (GA4GH) worked closely with Cell Genomics leadership to plan for a special issue in conjunction with launching the new journal. A collection of manuscripts, commentaries, and perspectives were published in the second issue of the journal. This included the flagship paper of GA4GH, with over 200 authors, alongside several other papers. Critical GA4GH standards, including the Variation Representation Specification, Passports, and Data Use Ontology, saw their first appearance alongside perspectives and experience in the use of federated approaches to data sharing. This work began a tradition of publishing GA4GH papers in the journal and helping highlight GA4GH’s critical role in supporting a globally connected world to advance genomic and health research. GA4GH has steadily grown to over 5,000 individuals spanning a globally connected network. Informed by real-world driver projects, its workstreams have produced over 40 standards and framing policies that now support responsible, secure, and interoperable sharing of genomic and health data, fueling advances in precision medicine and research.
Declaration of interests
S.T. is a member of the Cell Genomics advisory board; a scientific advisory board member of Bioptimus, ForeSite Labs, and Xaira Therapeutics; a co-founder, board observer, and equity holder of TransitionBio; a co-founder, consultant, and board director of Ensocell Therapeutics; a non-executive director of 10× Genomics; and a part-time employee of GlaxoSmithKline. B.S. is a member of the Cell Genomics advisory board and an employee and shareholder of Colossal Biosciences. N.A.H. is a member of the Cell Genomics advisory board and the Cell editorial board. H.R. is a member of the Cell Genomics advisory board.