Sheng Chih (Peter) Jin, Ph.D.

Assistant Professor
Genetics
Pediatrics

Human and Statistical Genetics Program
Computational and Systems Biology Program
Molecular Genetics and Genomics Program
Biomedical Informatics and Data Science Program

  • 314-273-2710

  • 5206 Couch Biomedical Research Bldg.

  • jin810@wustl.edu

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

  • genomics, bioinformatics, human genetics, data science, rare mendelian diseases, neurodevelopmental disorders, neurodegenerative diseases

  • We use human genetic, genomic, and bioinformatic approaches to identify mutations underlying human diseases and their molecular mechanisms

Research Abstract:

The mission of our lab 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, genomics, and bioinformatics methods to better analyze and integrate exome and genome sequencing, SNP array, RNA-sequencing, epigenomic, metabolomic, and proteomics data. Through integration of diverse type of transcriptomic and epigenetic functional annotations, the integrative genomic analysis will provide a better understanding of the molecular basis of cardiovascular diseases and neurodevelopmental disorders.

We collaborate with clinicians, the Yale Center for Mendelian Genomics, the Pediatric Cardiac Genomics Consortium, and the International Cerebral Palsy Genomics Consortium, 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

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. In Press

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 Q¹, Zhu C¹, Bilguvar K¹, Padilla-Lopez S¹, Lifton RP¹, Gecz J¹, MacLennan A¹, Kruer MC¹ (2020). Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics, in press.

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: 6/25/2020 8:53:07 AM

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