Kai Wang

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Dr. Wang obtained his BS at Peking University and Ph.D. at the University of Washington. He had postdoctoral training at the University of Pennsylvania and Children’s Hospital of Philadelphia, working on genomic analysis of multiple human diseases. Prior to coming to New York City, he was an Associate Professor of Psychiatry at the University of Southern California. He developed PennCNV, one of the most widely used software tools to detect copy number variations from high-density SNP arrays, as well as ANNOVAR, one of the most widely used software tools for functional annotation of genetic variants from high-throughput sequencing data. He joined Columbia in 2016 as an Associate Professor of Biomedical Informatics and the Director of Clinical Informatics at the Institute for Genomic Medicine.


  • Chinese


Dr. Wang’s research focus on the development of bioinformatics methods to analyze DNA and RNA sequencing data, and to enable the implementation of genomic medicine in clinical settings. Current projects include: (1) Develop a phenotype-driven approach to identify disease causal genes and variants (2) Develop integrative approaches for clinical interpretation of genetic variants (3) Develop novel algorithms to extract biological insights from long-read sequencing data (4) Use machine learning approaches on molecular profiles to optimize disease treatments and predict patients survival.

Selected Publications

  1. 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 Medicine, in press, 2016
  2. Zhao J, Song X, Wang K. lncScore: alignment-free identification of long noncoding RNA from assembled novel transcripts, Scientific Reports, 6:34838, 2016
  3. Cai M, Gao F, Lu W, Wang K. w4CSeq: software and web application to analyze 4C-Seq data, Bioinformatics, pii: btw408, 2016
  4. Shi L, Guo Y, Dong C, Huddleston J, ..., Zhou L, Eichler EE, So KF, Wang K. Long read sequencing and de novo assembly of a Chinese genome, Nature Communications, 7:12065, 2016
  5. Ding X, Yang X, Liang G, Wang K. Isoform switching and exon skipping induced by the DNA methylation inhibitor 5-aza-2'-deoxycytidine, Scientific Reports, 6:24545, 2016
  6. Yang H, Wang K. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nature Protocols, 10:1556-1566, 2015
  7. Yang H, Robinson PN, Wang K. Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nature Methods, 12:841-843, 2015
  8. Guo Y, Ding X, Shen Y, Lyon GJ, Wang K. SeqMule: automated analysis pipeline for analysis of human exome/genome sequencing data, Scientific Reports, 5:14283, 2015
  9. Gao F, Wang K. Ligation-anchored PCR unveils immune repertoire of TCR-beta from whole blood. BMC Biotechnology, 15:39, 2015
  10. He M, Person TN, Hebbring SJ, ......, Wang K. SeqHBase: a big data toolset for family-based sequencing data analysis. Journal of Medical Genetics, 52:282-288, 2015
  11. Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K*, Liu X*. Comparison and integration of deleteriousness prediction methods of nonsynonymous SNPs in whole exome sequencing studies. Human Molecular Genetics, 24:2125-2137, 2015 (*:co-corresponding author)
  12. Guo Y, Conti DV, Wang K. Enlight: web-based integration of GWAS results with biological annotations. Bioinformatics, 31:275-276, 2015