Pengfei Liu (original) (raw)

Pengfei Liu, Ph.D.

Picture

Liu

Pengfei Liu, Ph.D.

Director

Email

pengfeil@bcm.edu

Positions

Director

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

Associate Clinical Director

NGS/Molecular
Baylor Genetics

Associate Professor

Molecular and Human Genetics
Baylor College of Medicine

Director

Medical Genetics and Multiomics Laboratory (MGML)

Education

PhD from Baylor College of Medicine

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. Liu is a board-certified PhD clinical geneticist with a primary research interest in translating new technologies into clinical testing to advance the diagnostics and therapy of rare diseases. His clinical work has provided key evidence to recognize the necessity and importance of clinical reanalysis of diagnostic exome data. Dr. Liu has led the launch of clinical whole genome sequencing at Baylor Genetics as well as the clinical RNA-seq for the Undiagnosed Diseases Network (UDN). He has received multiple honors and awards, including the Michael Watson’s Genome Medicine Innovation Award from the ACMG, the Genomic Innovator Award from the NHGRI, and the Cotterman Award from the ASHG.

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
Vetrini F, McKee S, Rosenfeld JA, [...], Lupski JR, Liu P. "De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.." Genome Med. 2019;11:12. Pubmed PMID: 30819258
Mao D, Liu C, Wang L, (…), Liu P, Liu Z. "AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.." NEJM AI. 2024;1:10.1056/aioa2300009. Pubmed PMID: 38962029
Zhao S, Macakova K, Sinson J, (…), Liu P. "Clinical validation of RNA sequencing for Mendelian disorder diagnostics." medRxiv. 2024;doi.org/10.1101/2024.08.15.24312057
Yuan, B, Schulze, K, (...), Liu P "Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits.." Genome Med. 2022;14:113.
Li S, Zhao S, Sinson JC, (…), Liu P. "The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing." Am J Hum Genet. 2024;111:841-862. Pubmed PMID: 38593811
Du H, Jolly A, Grochowski CM, (…), Liu P. "The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation." Genome Med. 2022;14:122. Pubmed PMID: 36303224

Hide 6 publications

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