Li, Heng

The Sequence Alignment/Map format and SAMtools

Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 62,041

Fast and accurate short read alignment with Burrows-Wheeler transform

Li, H., & Durbin, R. (2009) · Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 58,607

Minimap2: Pairwise alignment for nucleotide sequences

Li, H. (2018) · Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 14,807

Fast and accurate long-read alignment with Burrows-Wheeler transform.

Li, H., & Durbin, R. (2010) · Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 12,063

Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm

Cheng, H., Concepcion, G. T., Feng, X., Zhang, H., & Li, H. (2021) · Nature Methods

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 5,859

A draft sequence of the Neandertal genome

Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 4,318

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 3,684

The complete sequence of a human genome

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., et al. (2022) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 3,136

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 2,638

Inference of human population history from individual whole-genome sequences

Li, H., & Durbin, R. (2011) · Nature

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 2,590

The complete genome sequence of a Neanderthal from the Altai Mountains

Prüfer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., Heinze, A., Renaud, G., Sudmant, P. H., de Filippo, C., et al. (2014) · Nature

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 2,254

Genetic history of an archaic hominin group from Denisova Cave in Siberia

Reich, D., Green, R. E., Kircher, M., Krause, J., Patterson, N., Durand, E. Y., Viola, B., Briggs, A. W., Stenzel, U., Johnson, P. L. F., et al. (2010) · Nature

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 1,991

A high-coverage genome sequence from an archaic denisovan individual

Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 1,967

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Wenger, A. M., Peluso, P., Rowell, W. J., Chang, P.-C., Hall, R. J., Concepcion, G. T., Ebler, J., Fungtammasan, A., Kolesnikov, A., Olson, N. D., et al. (2019) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,841

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Mallick, S., Li, H., Lipson, M., Mathieson, I., Gymrek, M., Racimo, F., Zhao, M., Chennagiri, N., Nordenfelt, S., Tandon, A., et al. (2016) · Nature

Forensic and Genetic ResearchPleistocene-Era Hominins and Archaeology

Cited by 1,584

Ancient human genomes suggest three ancestral populations for present-day Europeans

Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S., Kirsanow, K., Sudmant, P. H., Schraiber, J. G., Castellano, S., Lipson, M., et al. (2014) · Nature

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 1,357

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Schneider, V. A., Graves-Lindsay, T., Howe, K., Bouk, N., Chen, H.-C., Kitts, P. A., Murphy, T. D., Pruitt, K. D., Thibaud-Nissen, F., Albracht, D., et al. (2017) · Genome Research

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,193

The sequence and de novo assembly of the giant panda genome

Li, R., Fan, W., Tian, G., Zhu, H., He, L., Cai, J., Huang, Q., Cai, Q., Li, B., Bai, Y., et al. (2010) · Nature

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 1,180

A draft human pangenome reference.

Liao, W.-W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., et al. (2023) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,129

Genome sequence of a 45,000-year-old modern human from western Siberia

Fu, Q., Li, H., Moorjani, P., Jay, F., Slepchenko, S. M., Bondarev, A. A., Johnson, P. L. F., Aximu-Petri, A., Prüfer, K., de Filippo, C., et al. (2014) · Nature

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 1,023

The diploid genome sequence of an Asian individual

Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J., et al. (2008) · Nature

Genomics and Phylogenetic StudiesForensic and Genetic Research

Cited by 924

A survey of sequence alignment algorithms for next-generation sequencing

Li, H., & Homer, N. (2010) · Briefings in Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 875

TreeFam: a curated database of phylogenetic trees of animal gene families

Li, H. (2006) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 523

The Human Pangenome Project: a global resource to map genomic diversity

Wang, T., Antonacci-Fulton, L., Howe, K., Lawson, H. A., Lucas, J. K., Phillippy, A. M., Popejoy, A. B., Asri, M., Carson, C., Chaisson, M. J. P., et al. (2022) · Nature

Genomics and Phylogenetic StudiesGenetic Associations and Epidemiology

Cited by 494