Email

pengfeil@bcm.edu

Positions

Assistant Professor

Molecular and Human Genetics
Baylor College of Medicine

Director

ACGME/ABMGG Laboratory Genetics and Genomics Fellowship Program
Baylor College of Medicine
Houston, Texas United States

Associate Clinical Director

NGS/Molecular
Baylor Genetics

Education

PhD from Baylor College of Medicine

01/2012 - Houston, TX

Certifications

Clinical Molecular Genetics

#2015130

American 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

The ultimate research goals of the Liu lab are to (1) develop novel approaches to improve the implementation of genomic medicine, and to (2) utilize clinical diagnostic big data to generate knowledge that advances genomic science.

In the Undiagnosed Diseases Network (UDN) sequencing core, I have been leading the development and implementation of clinical whole genome sequencing (cWGS) for the diagnostics of Mendelian disorders. We have been working to establish a robust analytical pipeline with automation to perform reanalysis of cWGS data. To streamline interpretation of intronic variants revealed by cWGS, we have focused on neurological diseases, aiming to develop a fast, low-cost protocol that enables RNAseq profiling of patient-specific induced neurons trans-differentiated from clinically accessible tissues. Our group has also been investigating on various sequencing modalities beyond the currently widely used short-read based WGS technology for their potential in clinical diagnostics.

In another project, we seek to use the unique selection of patients with recurrent genomic deletions to elucidate the impact and mechanisms of genetic modifiers. We propose to integrate patient-based genomic analysis with cell-based genetic engineering and functional characterization to enhance the detection power of disease-risk alleles. Findings from this project are expected to bridge the gap between our understanding of highly penetrant, rare Mendelian variants and variants with higher population frequencies and association with complex diseases.

Websites

Selected Publications

• Yuan B, Neira J, Pehlivan D, [...], Xiao R, Liu, P. "Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies." Genet Med.2018;: Pubmed PMID: 30158690
• Liu P, Yuan B, Carvalho CM, [...], Hurles ME, Lupski JR. "An Organismal CNV Mutator Phenotype Restricted to Early Human Development." Cell.2017;168:830. Pubmed PMID: 28235197
• Liu P, Erez A, Nagamani SC, [...], Lupski JR, Bi W. "Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.." Cell.2011;146:889. Pubmed PMID: 21925314
• Liu P, Meng L, Normand EA, [...], Lupski JR, Yang Y. "Reanalysis of Clinical Exome Sequencing Data.." N Engl J Med.2019;380:2478. Pubmed PMID: 31216405

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