Heng Li, Ph.D.

Heng Li, PhD

Associate Professor of Biomedical Informatics, Dana-Farber Cancer Institute and Harvard Medical School

Heng Li studies advanced computational algorithms to solve practical biological problems, currently with a focus on sequence alignment, variant calling, de novo assembly, data storage, and information query. He developed and maintains several widely used software packages, such as BWA, samtools, minimap2, and seqtk, for analyzing high-throughput sequencing data. He has also collaborated with multiple research groups and published work on the analysis of single-cell sequence data, chromosome conformation, cancer genomics, population genetics and species evolution.


DBMI Research Areas
pIRS: Profile-based Illumina pair-end reads simulator.
Authors: Hu X, Yuan J, Shi Y, Lu J, Liu B, Li Z, Chen Y, Mu D, Zhang H, Li N, Yue Z, Bai F, Li H, Fan W.
Bioinformatics
View full abstract on Pubmed
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies.
Authors: Pasaniuc B, Rohland N, McLaren PJ, Garimella K, Zaitlen N, Li H, Gupta N, Neale BM, Daly MJ, Sklar P, Sullivan PF, Bergen S, Moran JL, Hultman CM, Lichtenstein P, Magnusson P, Purcell SM, Haas DW, Liang L, Sunyaev S, Patterson N, de Bakker PI, Reich D, Price AL.
Nat Genet
View full abstract on Pubmed
The date of interbreeding between Neandertals and modern humans.
Authors: Sankararaman S, Patterson N, Li H, Pääbo S, Reich D.
PLoS Genet
View full abstract on Pubmed
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data.
Authors: Li H.
Bioinformatics
View full abstract on Pubmed
Inference of human population history from individual whole-genome sequences.
Authors: Li H, Durbin R.
Nature
View full abstract on Pubmed
Improving SNP discovery by base alignment quality.
Authors: Li H.
Bioinformatics
View full abstract on Pubmed
Tabix: fast retrieval of sequence features from generic TAB-delimited files.
Authors: Li H.
Bioinformatics
View full abstract on Pubmed
Genetic history of an archaic hominin group from Denisova Cave in Siberia.
Authors: Reich D, Green RE, Kircher M, Krause J, Patterson N, Durand EY, Viola B, Briggs AW, Stenzel U, Johnson PL, Maricic T, Good JM, Marques-Bonet T, Alkan C, Fu Q, Mallick S, Li H, Meyer M, Eichler EE, Stoneking M, Richards M, Talamo S, Shunkov MV, Derevianko AP, Hublin JJ, Kelso J, Slatkin M, Pääbo S.
Nature
View full abstract on Pubmed
Evolutionary transients in the rice transcriptome.
Authors: Wang J, Zhang J, Li R, Zheng H, Li J, Zhang Y, Li H, Ni P, Li S, Li S, Wang J, Liu D, McDermott J, Samudrala R, Liu S, Wang J, Yang H, Yu J, Wong GK.
Genomics Proteomics Bioinformatics
View full abstract on Pubmed
A map of human genome variation from population-scale sequencing.
Authors: Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.
Nature
View full abstract on Pubmed