Pengfei Liu, Ph.D.
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Pengfei Liu, Ph.D.
Director
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
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
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