Li, Heng

The complete sequence of a human Y chromosome

Rhie, A., Nurk, S., Cechova, M., Hoyt, S. J., Taylor, D. J., Altemose, N., Hook, P. W., Koren, S., Rautiainen, M., Alexandrov, I. A., et al. (2023) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenomics and Phylogenetic Studies

Cited by 471

The Date of Interbreeding between Neandertals and Modern Humans

Sankararaman, S., Patterson, N., Li, H., Pääbo, S., & Reich, D. (2012) · PLoS Genetics

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 460

The design and construction of reference pangenome graphs with minigraph

Li, H., Feng, X., & Chu, C. (2020) · Genome Biology

Genomics and Phylogenetic StudiesGenome Rearrangement Algorithms

Cited by 455

Pangenome Graph Construction from Genome Alignment with Minigraph-Cactus

Hickey, G., Monlong, J., Ebler, J., Novak, A., Eizenga, J. M., Gao, Y., Human Pangenome Reference Consortium, Marschall, T., Li, H., & Paten, B. (2022) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 345

Pangenome graph construction from genome alignments with Minigraph-Cactus

Hickey, G., Monlong, J., Ebler, J., Novak, A. M., Eizenga, J. M., Gao, Y., Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Asri, M., et al. (2024) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 343

TreeFam: 2008 update

Ruan, J., Li, H., Chen, Z., Coghlan, A., Coin, L. J. M., Guo, Y., Heriche, J.-K., Hu, Y., Kristiansen, K., Li, R., et al. (2007) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 332

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Pasaniuc, B., Rohland, N., McLaren, P. J., Garimella, K., Zaitlen, N., Li, H., Gupta, N., Neale, B. M., Daly, M. J., Sklar, P., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

Cited by 299

Curated variation benchmarks for challenging medically relevant autosomal genes

Wagner, J., Olson, N. D., Harris, L., McDaniel, J., Cheng, H., Fungtammasan, A., Hwang, Y.-C., Gupta, R., Wenger, A. M., Rowell, W. J., et al. (2022) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 241

Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph

Cheng, H., Asri, M., Lucas, J., Koren, S., & Li, H. (2024) · Nature Methods

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 222

Semi-automated assembly of high-quality diploid human reference genomes

Jarvis, E. D., Formenti, G., Rhie, A., Guarracino, A., Yang, C., Wood, J., Tracey, A., Thibaud-Nissen, F., Vollger, M. R., Porubsky, D., et al. (2022) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 209

Genes Affecting Vocal and Facial Anatomy Went Through Extensive Regulatory Divergence in Modern Humans

Gokhman, D., Nissim-Rafinia, M., Agranat-Tamir, L., Housman, G., García-Pérez, R., Lizano, E., Cheronet, O., Mallick, S., Nieves-Colón, M. A., Li, H., et al. (2017) · Nature Communications

Epigenetics and DNA MethylationPleistocene-Era Hominins and Archaeology

Cited by 144

Recombination between heterologous human acrocentric chromosomes

Guarracino, A., Buonaiuto, S., de Lima, L. G., Potapova, T., Rhie, A., Koren, S., Rubinstein, B., Fischer, C., Human Pangenome Reference Consortium, Abel, H. J., et al. (2023) · Nature

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 134

Increased mutation and gene conversion within human segmental duplications

Vollger, M. R., Dishuck, P. C., Harvey, W. T., DeWitt, W. S., Guitart, X., Goldberg, M. E., Rozanski, A. N., Lucas, J., Asri, M., Human Pangenome Reference Consortium, et al. (2023) · Nature

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 104

Identifying centromeric satellites with dna-brnn

Li, H. (2019) · Bioinformatics

Chromosomal and Genetic VariationsGenomics and Phylogenetic Studies

Cited by 28