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Jim Mullikin retires after making major contributions to genome sequencing

Anna Rogers, M.A. September 26, 2023   PRESS CONTACT

Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.

In 1997, Jim Mullikin, Ph.D., was looking for new scientific opportunities. His wife, Liz, saw a newspaper article about “some big genomics effort” and wondered if he should get involved. That big genomics effort was the Human Genome Project, which Dr. Mullikin joined, starting his long career in genomics.

Dr. Mullikin earned bachelor’s and master’s degrees in electrical engineering from Purdue University and then obtained a Ph.D. in physics from Delft University of Technology in the Netherlands. Afterwards, Dr. Mullikin worked adjacent to genomics, using his skills in technology development and data analysis to improve how scientists image DNA with microscopes.

Dr. Mullikin first joined the Human Genome Project at the Sanger Center in England. There, he advanced DNA sequencing and analysis methods. His work contributed not just to sequencing the human genome, but also the genomes of important research organisms, such as mice, C. elegans and zebrafish.

Throughout the Human Genome Project, Dr. Mullikin met many scientists who would become his colleagues when he arrived at the National Human Genome Research Institute (NHGRI) in 2003, having been recruited by the then scientific director and current NHGRI director, Eric Green, M.D., Ph.D.

At NHGRI, Dr. Mullikin contributed to other major collaborative efforts in genomics, such as the International HapMap Project and the ENCODE Consortium. Dr. Mullikin also collaborated on the Neanderthal Genome Project, for which Svante Pääbo Ph.D., won the Nobel Prize in Medicine in 2022.

Dr. Mullikin’s research group developed new DNA sequence analysis methods, some of which have been integrated into the workflow of the NIH Intramural Sequencing Center (NISC). Dr. Mullikin assumed the role of NISC director in 2009, and in that role, his expertise extended to projects throughout NHGRI and NIH.

Covering topics ranging from the Human Genome Project to the future of genome sequencing, Dr. Mullikin discussed his career in an interview with science writer Anna Rogers.

This interview has been edited and condensed for clarity.

Anna Rogers: What accomplishments in your career are you most proud of?

Jim Mullikin: Of course, the Human Genome Project is one of the top ones. I started working on the Human Genome Project in 1997, and the draft human genome sequence was finished just before I moved to NHGRI in 2003. Seeing the whole progress, from the very early days of Sanger sequencing all the way to a complete telomere-to-telomere human genome sequence has been very exciting.


I’ve also been involved in several other big projects looking at human genomic variation. Early in the Human Genome Project, even before we had finished a rough draft, we were already talking about how we needed to find genomic variants and then start studying those variants and how they contribute to human health and disease.


Another big one for me was working with Svante Pääbo on the Neanderthal Genome Project, for which he recently won the Nobel Prize. It’s pretty amazing to have been on a project seen as Nobel Prize worthy, and it’s exciting to know that the parts of the Neanderthal genome live on within many of us today. People with ancestry outside of Sub-Saharan Africa have 1% to 3% Neanderthal-derived sequences in their genomes, and now we can point to where those sequences are in some of our genomes.

Rogers: What was it like to become the director of NISC, and how have you seen NISC change over time?

Mullikin: NISC has evolved in tandem with rapidly advancing DNA sequencing technologies. When I was appointed acting director in 2009, we were transitioning from Sanger sequencing to the massively parallel modern DNA sequencing technologies, which revolutionized the field. Now, we can sequence a genome for less than $1,000, which was always a big goal following the Human Genome Project.


These new technologies opened up many possibilities to look at all human genomic variation, not just single-nucleotide variants, but also structural variants. That’s thanks to the long-read DNA sequencing technologies that we have now.


The possibilities are expanding all the time. My background is electrical engineering and physics, so technology development has always been the most interesting part to me. It’s been exciting to see how the new technologies that we bring into NISC have enabled a tremendous amount of great research.

Rogers: What are you most excited about in the future of genome sequencing and genomics?

Mullikin: I think new technologies will continue to be developed along the trajectory of generating longer and longer DNA sequence reads, with the goal of getting to the point where we can generate telomere-to-telomere genome sequences for everybody. This would be a big change for the field. Right now, the genomics community is aiming to generate telomere-to-telomere sequences for hundreds of human genomes, not hundreds of thousands, but I think someday that will be possible.

Rogers: What are your plans for retirement?

Mullikin: There are various hobbies and travel plans, the kind of standard things you think of in retirement. Mostly, there’s just freedom to take off and do things as you would like, and that’s what I’m looking forward to.

Last updated: September 26, 2023