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Email

pengfeil@bcm.edu

Positions

Director

ACGME/ABMGG Laboratory Genetics and Genomics Fellowship Program
ÔÚÏߺÚÁÏÃÅ
Houston, Texas United States

Associate Clinical Director

NGS/Molecular
Baylor Genetics

Associate Professor

Molecular and Human Genetics
ÔÚÏߺÚÁÏÃÅ

Director

Medical Genetics and Multiomics Laboratory (MGML)

Education

PhD from ÔÚÏߺÚÁÏÃÅ

01/2012 - Houston, TX

Certifications

Clinical Molecular Genetics

#2015130

American Board of Medical Genetics and Genomics

Laboratory Genetics and Genomics

#2023143

merican Board of Medical Genetics and Genomics

Honors & Awards

C. W. Cotterman Award

The American Society of Human Genetics (01/2012)

The 10 most significant advances in genomic medicine for 2019, by NHGRI

https://www.cell.com/ajhg/pdf/S0002-9297(19)30427-6.pdf

Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award

The ACMG Foundation for Genetic and Genomic Medicine (03/2022)

Professional Interests

• Clinical whole genome sequencing
• Medical genetics
• Genomic disorders

Professional Statement

Dr. Pengfei Liu has contributed extensively to the advancement of genomic medicine for rare diseases over the past two decades. His work spans a broad range of technologies that have shaped modern clinical genetics—from early investigations of genome rearrangements using array-based platforms to clinical reanalysis of exome sequencing, whole genome sequencing (WGS) implementation, and, more recently, clinical transcriptome sequencing. These efforts have helped expand the diagnostic landscape for Mendelian disorders and laid the foundation for future precision medicine approaches.

Dr. Liu’s research includes a landmark study on clinical exome reanalysis published in The New England Journal of Medicine, which was named one of the Top 10 Genomic Advances of the Year by NHGRI. He also developed and validated the clinical WGS test for the NIH Undiagnosed Diseases Network (UDN), now a central diagnostic tool at Baylor Genetics and widely used for patients with rare and undiagnosed conditions.

As Director of the Medical Genetics and Multiomics Laboratory (MGML) at ÔÚÏߺÚÁÏÃÅ, Dr. Liu leads efforts to bring transcriptome sequencing into clinical practice. His lab has established protocols to generate disease-relevant tissues through patient-derived cell transdifferentiation, enabling detection of splicing disruptions and gene expression anomalies not captured by DNA sequencing alone. This approach not only enhances diagnostic yield, but also supports downstream RNA-guided therapeutic development, including screening of antisense oligonucleotides (ASOs).

In addition to his research, Dr. Liu directs the ACGME-accredited Laboratory Genetics and Genomics Fellowship Program at Baylor, where he mentors and trains future leaders in clinical molecular diagnostics. He plays an active role in national consortia such as the UDN, GREGoR, RADIANT, and PrenatalSEQ, contributing to collaborative efforts to improve the diagnosis and treatment of rare genetic conditions.

Websites

Selected Publications

• Yuan B, Neira J, Pehlivan D, [...], Xiao R, Liu, P. "." Genet Med. 2018; Pubmed PMID:
• Liu P, Yuan B, Carvalho CM, [...], Hurles ME, Lupski JR. "." Cell. 2017;168:830. Pubmed PMID:
• Liu P, Erez A, Nagamani SC, [...], Lupski JR, Bi W. "." Cell. 2011;146:889. Pubmed PMID:
• Liu P, Meng L, Normand EA, [...], Lupski JR, Yang Y. "." N Engl J Med. 2019;380:2478. Pubmed PMID:

Funding

Characterizing disease-causing variants using personal genomes with large recurrent deletions - #R35 HG011311

( 07/01/2021 - 06/30/2026 )

NHGRI

PI: Pengfei Liu

Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN) - #U01 HG007942

( 09/22/2014 - 06/30/2022 )

NHGRI

PI: Christine Eng