Pengfei Liu, Ph.D. ’12, Fel. ’15, is an internationally recognized leader in genomic medicine for rare diseases, whose contributions span the full arc of translational genetics. His journey in science began at Baylor College of Medicine, where he earned his Ph.D. in molecular and human genetics under the mentorship of Dr. James R. Lupski.
While at Baylor, Dr. Liu made foundational discoveries that reshaped our understanding of genome instability. His work led to two landmark publications in Cell, which uncovered mutational mechanisms such as chromothripsis and serial replication slippage during early human development, alongside key contributions to defining the molecular basis of recurrent genomic rearrangements.
Following his graduate studies, Dr. Liu pursued clinical training at the Medical Genetics Laboratory (MGL) at Baylor, earning board certification in Clinical Molecular Genetics. He has since come full circle, now serving as an associate professor in the Department of Molecular and Human Genetics and director of the ACGME-accredited Laboratory Genetics and Genomics Fellowship Program at Baylor. Through this role, he has mentored and trained a new generation of clinical geneticists, reinforcing Baylor’s national leadership in medical genetics education.
Additionally, Dr. Liu currently directs the Medical Genetics and Multiomics Laboratory (MGML) at Baylor, where he has pioneered transcriptome sequencing as a clinical diagnostic tool for rare genetic disorders. His group was among the first to clinically implement whole-transcriptome RNA sequencing for the diagnosis of Mendelian conditions—transforming a powerful research technology into a robust clinical test. He led efforts to define clinical standards for its use, developed analytical frameworks to uncover splicing and expression outliers, and implemented workflows using patient-derived cell reprogramming to gain access to disease-relevant tissue. This has enabled diagnoses in previously unsolved cases and catalyzed RNA-based therapeutic strategies, including antisense oligonucleotide screening and development.
As a central figure in the National Institutes of Health Undiagnosed Diseases Network, Dr. Liu launched and clinically validated a whole genome sequencing test that has become a flagship diagnostic offering at Baylor Genetics, directly impacting thousands of patients. His work continues to shape the field by identifying variant types that traditional methods often miss and
by integrating multiomics into clinical decision-making. With over 140 peer-reviewed publications and leadership roles in initiatives such as GREGoR, RADIANT, and PrenatalSEQ, Dr. Liu exemplifies the ideals of the Baylor College of Medicine community through his commitment to scientific excellence, patient-centered innovation and educational leadership.
