معرفی
Pengfei Liu, Ph.D., is an Associate Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine and Associate Clinical Director of NGS/Molecular at Baylor Genetics. He directs the ACGME/ABMGG Laboratory Genetics and Genomics Fellowship Program and leads the Medical Genetics and Multiomics Laboratory (MGML), a CLIA-certified diagnostic facility.
- Education: PhD from Baylor College of Medicine (2012), BS from Nankai University
- Certifications: American Board of Medical Genetics (Clinical Molecular Genetics #2015130, Laboratory Genetics and Genomics #2023143)
Dr. Liu's research focuses on genomic medicine for rare diseases, with emphasis on clinical implementation of whole genome/exome/transcriptome sequencing. His lab pioneers patient-derived cell transdifferentiation for functional variant analysis and antisense oligonucleotide therapies for Mendelian disorders. Current projects include integrating low-cost sequencing technologies (Ultima Genomics) and characterizing genetic modifiers in recurrent deletions (e.g., 1q21.1 and 17q12 syndromes).
His publications span genomic structural variation mechanisms, transcriptome diagnostics, and AI applications in Mendelian disease diagnosis (AI-MARRVEL system). The lab contributes to national initiatives including NIH Undiagnosed Diseases Network (UDN), GREGoR, RADIANT, and PrenatalSEQ consortia.
- Scientific Awards:
- C. W. Cotterman Award (ASHG 2012)
- NHGRI Top 10 Genomic Advances (2019)
- ACMG Michael S. Watson Innovation Award (2022)
- NHGRI Genomic Innovator Award (2021)
The MGML, under Dr. Liu's leadership, operates the first clinical RNA-seq pipeline for the NIH Undiagnosed Diseases Network. The lab trains clinical geneticists through its ACGME-accredited fellowship program and collaborates with families affected by SPTAN1 mutations to develop individualized therapies.
