Kai Wang, Ph.D.

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Associate Professor of Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine

Contact information
3501 Civic Center Blvd, CTRB 5004
Children's Hospital of Philadelphia
Philadelphia, PA 19104
Office: 2674259573
Fax: 2155903660
B.S. (Biochemistry & Molecular Biology)
Peking University, 2000.
M.S. (Tumor Biology)
Mayo Clinic, 2002.
Ph.D. (Microbiology & Computational Biology)
University of Washington, 2005.
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Description of Research Expertise

The research in our laboratory focuses on the development of bioinformatics methods to improve our understanding of the genetic basis of human diseases, and the integration of electronic health records and genomic information to facilitate genomic medicine on scale. Current projects include the development of computational tools to call structural variants and DNA modifications from long-read sequencing data, the identification/prioritization of disease-relevant genetic mutations, the use of deep neural network to predict prognosis and optimize therapy for patients with cancer, the application of systems biology approaches on single-cell gene expression data, and the data mining on electronic health records to predict genetic syndromes and causal genes.

Selected Publications

Xiao CL, Zhu S, He M, Chen D, Zhang Q, Chen Y, Yu GL, Liu J, Xie SQ, Luo F, Liang Z, Wang DP, Bo XC, Gu X-F*, Wang K*, Yan GR*: N6-methyladenine DNA modification in human genome. Mol Cell 71(2): 306-318, July 2018 Notes: doi: 10.1016/j.molcel.2018.06.015; *: Co-corresponding author.

He Z, Liu L, Wang K, Ionita-Laza I: A semi-supervised approach for predicting cell-type specific functional consequences of non-coding variation using MPRAs. Nat Commun 9(1): 5199, Dec 2018.

Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K*, Xia K*, Tang BS*: Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy. J Med Genet pii: jmedgenet-2018-105484, Sep 2018 Notes: doi: 10.1136/jmedgenet-2018-105484; *: co-corresponding author.

Chen Y, Millstein J, Liu Y, Chen GY, Chen X, Stucky A, Qu C, Fan JB, Chang X, Soleimany A, Wang K, Zhong J, Liu J, Gilliland FD, Li Z, Zhang X, Zhong JF: Single-Cell Digital Lysates Generated by Phase-Switch Microfluidic Device Reveal Transcriptome Perturbation of Cell Cycle. ACS Nano 12(5): 4687-4694, May 2018 Notes: DOI: 10.1021/acsnano.8b01272.

Hoon Son J, Xie G, Yuan C, Ena L, Li Z, Goldstein A, Huang L, Wang L, Shen F, Liu H, Mehl K, Groopman EE, Marasa M, Kiryluk K, Gharavi AG, Chung WK, Hripcsak G, Friedman C, Weng C*, Wang K*: Deep phenotyping on electronic health records facilitates genetic diagnosis by clinical exomes. Am J Hum Genet 103(1): 58-73, July 2018 Notes: doi: 10.1016/j.ajhg.2018.05.010; *: co-corresponding author.

Doostparast Torshizi A, Wang K: Next Generation Sequencing in Drug Development: Target Identification and Genetically Stratified Clinical Trials. Drug Discovery Today 23(10): 1776-1783, Oct 2018 Notes: doi: 10.1016/j.drudis.2018.05.015.

Li J, Zhang W, Yang H, Howrigan DP, Wilkinson B, Souaiaia T, Evgrafov OV, Genovese G, Clementel VA, Tudor JC, Abel T, Knowles JA, Neale BM, Wang K, Sun F, Coba MP: Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders. Nat Neurosci 20(8): 1150-1161, Aug 2017 Notes: doi:10.1038/nn.4594.

Li Q, Wang K: InterVar: Clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. Am J Hum Genet 100(2): 267-280, Feb 2017.

Li Q, Zhang P, Wang D, Gu W, Wang K: Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencing. Genome Med 9(1): 65, Jul 2017 Notes: doi: 10.1186/s13073-017-0456-7.

Dong C, Guo Y, Yang H, He Z, Liu X, Wang K: iCAGES: integrated CAncer GEnome score for comprehensively prioritizing driver genes in personal cancer genomes. Genome Med 8(1): 135, December 2016 Notes: doi:10.1186/s13073-01-0390-0.

Shi L, Yuo Y, Dong C, Huddleston J, Yang H, Han X, Fu A, Li Q, Lin N, Gong S, Lintner KE, Ding Q, Wang Z, Hu J, Wang D, Wang F, Wang L, Lyon GL, Guan Y, Shen Y, Evgrafov OV, Knolwles JA, Thibaud-Nissen F, Schneider V, Yu CY, Zou L, Eichler EE, So KF*, Wang K*: Long-read sequencing and de novo assembly of a Chinese genome. Nat Commun 7: 12065, June 2016 Notes: doi: 10.1038/ncomms12065; *: Co-corresponding author.

Yang H, Wang K: Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc 10(10): 1556-1566, October 2015 Notes: doi: 10.1038/nprot.2015.105.

Yang H, Robinson PN, Wang K: Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nat Methods 12(9): 841-843, September 2015 Notes: doi: 10.1038/nmeth.3484.

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Last updated: 07/14/2019
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