Clinical postdoctoral fellow, bioinformatics, human geneticists, data visualization
Joined December 2013
- Tweets 29
- Following 107
- Followers 80
- Likes 60
4 Photos and videos
30 Oct 2024
Manual inspection of CNVs remains essential for accurate variant interpretation. Check out our latest work, where we integrate multiple evidence sources for CNV interpretation, all in one platform! @LupskiLab @CMBCarvalho @GREGoR_research
biorxiv.org/content/10.1101/…
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31 Dec 2023
Our HMZDupFinder paper is online! Congrats to co-first authors @zain_dardas & AJ, @LupskiLab members, and all coauthors, @GambinTomasz , @zcoban, #GREGoR_research
academic.oup.com/nar/article…
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4 Nov 2023
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4 Nov 2022
@CluHaowei @LiuPF @CMBCarvalho @LupskiLab @JollyAngad @BCMHouston use short and long-read seq to characterize the MdnCNV phenomenon revealing early post-zygotic occurrence, disease-associated genes, and evidence of de novo multilocus pathogenic variation
bit.ly/3ND2kKB
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30 Oct 2022
We just passed by the tree on pic3 today :)
29 Oct 2022
Bye, LA. Didn’t have time to visit my favorite parts, the Huntington & La County Arboretum. At least I caught a palo borracho in bloom. 🥰
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28 Oct 2022
#ASHG2022 Please check out our work on MdnCNV phenomenon with long read and short read sequencing technologies, and HPO analysis that is online at Genome Medicine today. Huge thanks to @CGrochowski @JollyAngad @LiuPF @CMBCarvalho @LupskiLab
rdcu.be/cYqUE
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27 Oct 2022
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30 Jul 2022
Finally out! ☺️ Interested in #structuralvariation,#inversions, #complexrearrangements, #rarediseases? cell.com/trends/genetics/ful…
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4 Jun 2022
Great talks, scenery, and camaraderie at Cold Springs Harbor Lab’s Genome Stability & Integrity Symposium! #cshlsymp22
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11 May 2022
Our new work in Robinow Syndrome has been just published. Great collaboration with Chaofan Zhang at the @LupskiLab and Juliana @jumazzeu lab in Brazil.
11 May 2022
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome dlvr.it/SQ75xx
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19 Apr 2022
Enjoyed talking with the gene therapy group at UTSW today about our work on the genetics of axonopathies (HSP, neuropathies) and neurodevelopmental disorders!
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11 Apr 2022
Great work with @ryanlayer @aaronquinlan @brent_p to finally revolutionize SV DB & reliable AF estimation! STIX solves the problem of missing SV & ref bias for SV DB. Showcase in #Cancer filtering somatic calls & prioritization. @naturemethods @BCM_HGSC
nature.com/articles/s41592-0…
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23 Mar 2022
Thanks you to all the mentors, trainees, colleagues and collaborators. I learned all the innovations from you! Thank you ACMG for the recognition!
ACMG recognizes Pengfei Liu, PhD, FACMG @bcmhouston @BaylorGenetics with the 2022 #ACMGFoundation for Genetic and Genomic Medicine Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award. #ACMGMtg22 @LiuPF bit.ly/3L4IipV
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Join us in congratulating Dr. Christopher Grochowski who successfully defended his thesis today! 🥳 🎉 🙌 #genetics #genomics #PhD @lupskilab @CGrochowski
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“We seek to tackle the challenge of finding the cause of currently unexplained #rareGeneticDisorders.” Drs. D Pehlivan, T Mitani, @LupskiLab @zcoban @poseypod et al @AJHGNews @bcmneurology @GREGoR_research @UTHealthHouston @bcmhouston blogs.bcm.edu/2021/11/11/fro…
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13 Oct 2019
Proud of being part of team 5 #denovoSV for Baylor Hackathon this weekend! #baylorSV #NCBICODEATHON Great job everyone! Thanks
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13 Oct 2019
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