Jianxin Shi, Ph.D.

Senior Investigator

Biostatistics Branch


9609 Medical Center Drive
Room SG/7E122
Rockville, MD 20850



Research Topics

  • Boundary probability approximation of scan statistics of multiple dimensions
  • Importance sampling and its application to genetic studies
  • Copy number variants detection based on GWAS genotyping platforms
  • Integrative analysis of GWAS, microarray expression, eQTL, mQTL, and Chip-Seq data, with applications to cancer genetics and psychiatric genetics



Jianxin Shi received a B.S. in mathematics and a B.S. in economics from Beijing University in 1999 and an M.S. in information science from Beijing University in 2002. He received his Ph.D. in statistics from Stanford University under the supervision of Dr. David Siegmund in 2006. Dr. Shi then spent two years as a postdoctoral research fellow and one year as Research Scientist in the Health Research and Policy (HRP) department and the Department of Psychiatric and Behavioral Science at Stanford University, working on genome-wide association studies of breast cancer, schizophrenia, and recurrent depression. Dr. Shi joined the Biostatistics Branch of DCEG at NCI as a tenure-track principal investigator in August 2009.

Selected Publications

  1. Shi J, Li P. An integrative segmentation method for detecting germline copy number variations in SNP arrays. Genet Epidemiol. 2012;36(4):373-83.

  2. Shi J, Chatterjee N, Rotunno M, Wang Y, Pesatori AC, Consonni D, Li P, Wheeler W, Broderick P, Henrion M, Eisen T, Wang Z, Chen W, Dong Q, Albanes D, Thun M, Spitz MR, Bertazzi PA, Caporaso NE, Chanock SJ, Amos CI, Houlston RS, Landi MT. Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma. Cancer Discov. 2012;2(2):131-9.

  3. Shi J, Marconett CN, Duan J, Hyland PL, Li P, Wang Z, Wheeler W, Zhou B, Campan M, Lee DS, Huang J, Zhou W, Triche T, Amundadottir L, Warner A, Hutchinson A, Chen PH, Chung BS, Pesatori AC, Consonni D, Bertazzi PA, Bergen AW, Freedman M, Siegmund KD, Berman BP, Borok Z, Chatterjee N, Tucker MA, Caporaso NE, Chanock SJ, Laird-Offringa IA, Landi MT. Characterizing the genetic basis of methylome diversity in histologically normal human lung tissue. Nat Commun. 2014;5:3365.

  4. Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X, NCI DCEG Cancer Sequencing Working Group., NCI DCEG Cancer Genomics Research Laboratory., French Familial Melanoma Study Group., Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet. 2014;46(5):482-6.

  5. Shi J, Yang XR, Caporaso NE, Landi MT, Li P. VTET: a variable threshold exact test for identifying disease-associated copy number variations enriched in short genomic regions. Front Genet. 2014;5:53.

This page was last updated on October 20th, 2020