Sheng Chih (Peter) Jin, PhD

Assistant Professor
Genetics
Pediatrics

Human and Statistical Genetics Program
Computational and Systems Biology Program
Molecular Genetics and Genomics Program
Neurosciences Program

  • 314-273-2710

  • 5206 Couch Biomedical Research Bldg.

  • jin810@wustl.edu

  • https://scjin.github.io/index.html

  • Functional genomics, bioinformatics, human genetics, data science, rare diseases, pain

  • We use human genetic, functional genomic, and bioinformatic approaches to understand the consequence of genetic variants underlying diseases

Research Abstract:

Our mission is to provide meaningful and interpretable insight into disease biology, and define new targets for risk determination, prevention, and therapy. We are currently focusing on the formation, development, and application of genetic, genomic, and bioinformatic methods to better analyze and integrate genome sequencing, single-cell RNA-sequencing, epigenomic, spatial genomic, and proteomic data. Through integration of diverse type of omics data and epigenetic functional annotations, the integrated analysis will provide a better understanding of the molecular and cellular basis of cardiovascular diseases and neurological disorders. Following integrative genomic analyses, we use zebrafish and massively parallel reporter assays to precisely model human mutations.

We collaborate with clinicians, the Peripheral Neuropathy Research Registry, the Cerebral Palsy Research Network, the WashU Undiagnosed Diseases Network, and the Yale Center for Mendelian Genomics to assemble thoroughly phenotyped cohorts for gene discovery. We also collaborate with experimentalists to design scalable high-throughput assays to model effects of disease-associated mutations. If you think any of this sounds cool consider joining us in working to make the world a better place.

Selected Publications:

* Equal contribution; # Co-corresponding

Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen Y-H, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Lang Chen S-S, Storm PB, Diluna ML, Matouk C, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC#, Kahle KT#. 2021. DIAPH1 mutations in non-East Asian patients with sporadic moyamoya disease. JAMA Neurology. 2021 Aug 1;78(8):993-1003. PMID: 34125151.

Diab NS, King S, Dong W, Allington G, Sheth A, Peters S, Kahle KT#, Jin SC#. Analysis workflow to assess de novo genetic variants from whole-exome sequencing. STAR Protocols. 2021 Mar 10;2(1):100383. PMID: 33748785.

Jin SC*, Dong W*, Kundishora AJ*, Panchagnula S*, Moreno-De-Luca A*, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo ML, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine. 2020 Nov;26(11):1754-1765. PMID: 33077954.

Jin SC*, Lewis S*, Bakhtiari S*, Zeng X*, Sierant MC, Shetty S, Nordlie S, Elie A, Corbett M, Norton B, van Eyk C, Haider S, Guida B, Magee H, Liu J, Pastore S, Vincent J, Brunstrom-Hernandez J, Papavasileiou A, Fahey M, Berry J, Harper K, Zhou C, Zhang J, Li B, Heim J, Webber D, Frank M, Xia L, Xu Y, Zhu D, Zhang B, Sheth A, Knight JR, Castaldi C, Tikhonoa I, Lopez-Giraldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh J, Rodan L, Cohen J, Fatemi A, Lin A, Phillips J, Feyma T, MacLennan S, Vaughan S, Crompton K, Reid S, Reddihough D, Shang Q, Gao C, Novak I, Badawi N, Wilson Y, McIntyre S, Mane S, Wang X, Amor D, Zarnescu D, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan A, Kruer MC. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics. 2020 Oct;52(10):1046-1056. PMID: 32989326.

Alloco A*, Jin SC*, Duy PQ*, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT. Recessive inheritance of congenital hydrocephalus with other structural brain abnormalities caused by compound heterozygous mutations in ATP1A3. Frontiers Cellular Neuroscience. 2019 Sep 26;13:425. PMID: 31616254.

Jin SC*, Furey CG*, Zeng X, Alloco A, Nelson-Williams C, Karimy JK, Dong W, Ma S, Delpire E, Kahle KT. SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. Molecular Genetics & Genomic Medicine. 2019 Sep;7(9):e892. PMID: 31393094.

Duran D*, Zeng X*, Jin SC*, Choi J*, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane SM, Tikhonova IR, Castaldi C, Lopez-Giraldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Gunel M, Lifton RP, Kahle KT. Mutation in epigenetic modifiers and signaling regulators of neurovascular development in Vein of Galen malformation. Neuron. 2019 Feb 6;101(3):429-443.e4. PMID: 30578106.

Jin SC*, Homsy J*, Zaidi S*, Lu Q, Morton S, DePalma S, Zeng X, Qi H, Chang W, Hung W, Sierant M, Haider S, Zhang J, Knight J, Bjornson R, Castaldi C, Tikhonoa I, Bilguvar K, Mane S, Sanders S, Mital S, Russell M, Gaynor W, Deanfield J, Giardini A, Porter G, Srivastava D, Lo C, Shen Y, Watkins S, Yandell M, Yost J, Tristani-Firouzi M, Newburger J, Roberts A, Kim R, Zhao H, Kaltman J, Goldmuntz E, Chung W, Seidman J, Gelb B, Seidman C, Lifton RP, Brueckner M. (2017). Contribution of rare transmitted and de novo variants among 2,871 congenital heart disease probands. Nature Genetics. 2017 Nov;49(11):1593-1601. PMID: 28991257.

Duran D*, Jin SC*, DeSpenza T Jr*, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT. Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari malformation. Human Genome Variation. 2016 Dec 8;3:16042. PMID: 28018608.

Jin SC*, Carrasquillo MM*, Benitez BA, Skorupa T, Carrell D, Patel D, Lincoln S, Krishnan S, Kachadoorian M, Reitz C, Mayeux R, Wingo TS, Lah JJ, Levey AI, Murrell AI, Hendrie H, Foroud T, Graff-Radford NR, Goate AM, Cruchaga C, Ertekin-Taner N. TERM2 is associated with increased risk for Alzheimer’s disease in African Americans. Molecular Neurodegeneration. 2015 Apr 10;10:19. PMID: 25886450

Jin SC, Benitez BA*, Karch CM*, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C. Coding variants in TREM2 increase risk for Alzheimer’s disease. Human Molecular Genetics. 2014 Nov 1;23(21):5838-46. PMID: 24899047.

Benitez BA*, Jin SC*, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, Bellenguez C, Brown K, Medway C, Haddick PC, van der Brug MP, Bhangale T, Ortmann W, Behrens T, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Turton J, Braae A, Barber I, Fagan AM, Holtzman DM, Morris JC; 3C Study Group; EADI consortium; Alzheimer's Disease Genetic Consortium; Alzheimer's Disease Neuroimaging Initiative; GERAD Consortium, Williams J, Kauwe JS, Amouyel P, Morgan K, Singleton A, Hardy J, Goate AM, Cruchaga C. Missense variants in TREML2 protects against Alzheimer’s disease. Neurobiology of Aging. 2014 Jun;35(6):1510.e19-26. PMID: 24439484.

Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate AM, Ibero-American Alzheimer’s Disease Genetics Group Researchers, Cruchaga C. Poole-DNA sequencing identifies novel causative variants in PSEN1, GRN, and MAPT in a clinical early-onset and familial Alzheimer’s disease Ibero-American cohort. Alzheimer’s Research & Therapy. 2012 Aug 20;4(4):34. PMID: 22906081.

See the link below for a complete listing.
https://www.ncbi.nlm.nih.gov/myncbi/sheng%20chih.jin.1/bibliography/public/

Last Updated: 11/7/2022 11:47:09 AM

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