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#ScienceStartsHere: Yueyao Gao

Advancing patient care starts with making complex science usable in the real world. Yueyao Gao, Senior Computational Scientist in the Translational Analysis Group (TAG) at Broad Clinical Labs, works at the intersection of research and clinical application – developing and validating computational workflows that make genomic sequencing reliable, reproducible, and ready for patient care at scale. We recently asked her to share more about her work, what motivates her, and how she’s helping turn data into impact.

What do you do at Broad Clinical Labs?

I develop and validate computational workflows that make BCL sequencing products reliable and reproducible for clinical use. In practice, that often means taking methods that work in research settings and enabling them to work consistently at scale for real patients.

What drew you to this field of work?

I came from a plant biology background. My PhD focused on nitrogen fixation and RNA sequencing. However, I found that the pipelines I was building were often limited to individual research questions.

I joined BCL because I wanted to solve a different kind of challenge: building computational pipelines that matter at scale. At BCL, we are not just answering one question at a time – we are enabling workflows that bridge the gap between genomic data and real-world patient care.

What is something you’ve worked on at Broad/ BCL that you’re especially proud of?

Patients and their families undergoing genetic testing often face a grueling diagnostic odyssey – endless laboratory tests, long waits, and mounting costs. My work with a leading diagnostic collaborator and Illumina focused on a clear goal: evaluating whether whole genome sequencing (WGS) could replace chromosome microarray (CMA), the current gold standard, to help simplify that journey.

The transition wasn’t simple. While the sensitivity of WGS in CNV calling is well-established in the literature, we were solving a different challenge: operationalizing that sensitivity. The sheer volume of copy number variants generated by WGS is often more than variant analysts can realistically interpret. To address this, we collaborated with Illumina’s DRAGEN team to improve their cytogenetics module, and I developed a cohort-based filtering approach. We validated this approach on hundreds of real patient samples that had previously gone through CMA, demonstrating that WGS was not only equivalent in sensitivity and higher in resolution, but also usable for routine clinical reporting.

What I am most proud of is striking that balance between sensitivity and usability. It is one thing to build a tool that works in a controlled research setting; it is an entirely different challenge to make it part of a routine clinical workflow. Seeing that bridge form between research and real-world patient care is incredibly rewarding.

What keeps you motivated and/or inspired in your role?

Knowing that the work has real clinical impact keeps me motivated. We are not just building or assessing tools in a vacuum – we are refining workflows that scientists and families depend on for crucial clinical decisions.

When you realize that the accuracy of your computational pipeline directly affects patient care, the work stops being just science and becomes a fundamental responsibility.

In your own words, how, or why, does #ScienceStartsHere at BCL?

Science starts here because we are not just generating sequencing data, we are asking how that information can be translated into action.

BCL sits at a unique intersection of cutting-edge research and clinical responsibility. With scalable infrastructure, scientific expertise, and an innovative mindset, we are positioned to help redefine the standards of diagnosis and treatment.

When not in the office/lab, what are some things you enjoy doing?

Outside of work, I share my home with two cats, Huhu and Zizzy, who are excellent at reminding me when it’s time to step away from my computer. I also play badminton regularly and love cooking and exploring different cuisines – the kitchen is where I do some of my best thinking!

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Sean Hofherr

Chief of Clinical Strategy and Product Development, Broad Clinical Labs

Sean Hofherr is dual board certified by ABMGG in Clinical Biochemical Genetics and Clinical Molecular Genetics. Sean serves as the Chief of Clinical Strategy and Product Development at Broad Clinical Labs. In this role at BCL, Sean is able to leverage his extensive experience to guide the clinical vision and delivery across the organization. Sean most recently served as the Chief Operating Office at Fabric Genomics, which focuses on the use of AI and Bioinformatics for Clinical Interpretation of whole genome sequencing. Prior to Fabric, Sean was the Chief Scientific Officer and CLIA Director at the commercial reference laboratory, GeneDx.

Sean received his B.S. degree in Microbiology and Cell Sciences from the University of Florida before earning his Ph.D. in Molecular and Human Genetics from Baylor College of Medicine. Sean completed clinical fellowships in Clinical Biochemical Genetics and Clinical Molecular Genetics at the Mayo Clinic.

Danielle Perrin

Chief of Staff, Broad Clinical Labs

As Broad Clinical Labs’ Chief of Staff, Danielle Perrin advises and supports colleagues on the executive leadership team in BCL’s strategic planning and execution. She builds and leads new organizational functions and processes and leads critical projects, as well as driving effective information flow, decision making, and execution throughout the organization. An operations leader with a business, engineering, and biology background and 20+ years of experience in the genomics field, Perrin has a track record of driving operational excellence and building and scaling both physical and business processes. During her career at Broad, which started in 2003 at the tail end of the Human Genome Project, Perrin has led laboratory operations and R&D teams in Broad’s Genomics Platform, as well as fulfilling senior advisory and leadership roles in the Broad Institute’s COO and CFO offices.

Perrin received her B.S. in Biology and M.E. in Biotechnology Engineering from Tufts University and her M.B.A. from the MIT Sloan School of Management.

Tim De Smet

Chief Commercial Officer, Broad Clinical Labs

As Chief Commercial Officer of Broad Clinical Labs, Tim De Smet leads BCL’s business development, alliance management, external project management, and customer support teams. A Broad Institute employee since 2008, De Smet has held leadership roles and managed teams of various sizes in Broad’s Genomics Platform and clinical lab, spanning laboratory operations, finance, and informatics, and has expertise in work design, financial modeling, and high scale laboratory and business operations.

De Smet received his B.S. in Biochemistry and M.B.A. from Northeastern University.

Jim Meldrim

Chief Technology Officer, Broad Clinical Labs

As Chief Technology Officer, Jim Meldrim sets the vision for Broad Clinical Labs’ informatics systems, including the hardware and software used for sample intake and tracking, data production, analysis, and delivery. Having held a variety of laboratory and informatics-focused leadership roles at Broad, spanning R&D and production operations, Meldrim has been a leader and innovator in the generation, management, and analysis of genomic data since 1999, beginning with sequencing data generation for the Human Genome Project.

Meldrim received his B.S. in Biology from Cornell University.

Sheila Dodge

Chief Operating Officer, Broad Clinical Labs

As Chief Operating Officer, Sheila Dodge leads Broad Clinical Labs’ process development and implementation activities, as well as lab operations, financial planning and operations, quality & compliance, and core business processes. A Six Sigma Black Belt with extensive experience in process development and high throughput genomics operations, Dodge is an expert in work design and in collaborating with a range of collaborators, scientists, engineers, and technology partners to rapidly integrate new technologies and operationalize innovations. A member of the Broad Institute since 2001, Dodge is an Institute Scientist and lectures at the MIT Sloan School of Management on operations, dynamic work design, and visual management techniques.

Dodge received her B.A. in biochemistry and molecular biology from Boston University and her master’s degree in biology from Harvard University. She earned her M.B.A. from MIT Sloan School of Management.

Heidi Rehm, Ph.D., FACMG

Chief Medical Officer and Clinical Laboratory Director, Broad Clinical Labs

Heidi Rehm is board-certified by ABMGG in Clinical Molecular Genetics and Genomics and serves as BCL’s Chief Medical Officer and Clinical Laboratory Director. She oversees BCL’s regulatory requirements, leads the clinical team performing genomic interpretation and variant analysis, and guides BCL’s efforts in genomic testing for clinical and research use. She is also an Institute Member of the Broad and co-director of the Medical and Population Genetics Program. Rehm is also the Chief Genomics Officer in the Department of Medicine and Genomic Medicine Unit Director at the Center for Genomic Medicine at Massachusetts General Hospital, working to integrate genomics into medical practice. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. She co-leads both the Broad Center for Mendelian Genomics, focused on discovering novel rare disease genes, and the Matchmaker Exchange, which aids in gene discovery. She is Chair of the Global Alliance for Genomics and Health, a principal investigator of the Broad-LMM-Color All of Us Genome Center, co-leader of the Genome Aggregation Database (gnomAD), and a Board Member and Vice President of Laboratory Genetics for the American College of Medical Genetics and Genomics.

Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.

Niall Lennon, Ph.D.

Chair and Chief Scientific Officer, Broad Clinical Labs

As Chair and Chief Scientific Officer of Broad Clinical Labs, Niall Lennon leads the team and sets the scientific and clinical vision for the organization. Dr. Lennon joined the Broad Institute in 2006 and has since contributed to the development of applications for every major massively parallel sequencing platform across a range of fields. In 2013 Dr. Lennon led the effort to establish a CLIA licensed, CAP-accredited clinical laboratory at the Broad Institute to facilitate return of results to patients and to support clinical trials. More recently, he has led efforts to achieve FDA approval for large-scale genomics projects (NIH’s All of Us Research Program) and for Broad’s own clinical diagnostic for COVID-19 testing operation, which returned 37+ million results to patients. Dr. Lennon is a principal investigator of the eMerge and All of Us projects, an Institute Scientist at Broad, Associate Director of Broad’s Gerstner Center for Cancer Diagnostics, and an adjunct professor of biomedical engineering at Tufts University, where he teaches Molecular Biotechnology.

Dr. Lennon received a Ph.D. in pharmacology from University College Dublin and completed his postdoctoral studies at Harvard Medical School and Massachusetts General Hospital. He holds an executive certificate in management from the MIT Sloan School of Management.