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
BWT construction and search at the terabase scale.
Full-resolution HLA and KIR gene annotations for human genome assemblies.
Genome assembly in the telomere-to-telomere era.
Exploring gene content with pangene graphs.
Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing.
Authors: Tan KT, Slevin MK, Leibowitz ML, Garrity-Janger M, Shan J, Li H, Meyerson M.
Cell Genom
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Cell Genom
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Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph.
Evaluating and improving the representation of bacterial contents in long-read metagenome assemblies.
Pangenome graph construction from genome alignments with Minigraph-Cactus.
Authors: Hickey G, Monlong J, Ebler J, Novak AM, Eizenga JM, Gao Y.
Nat Biotechnol
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Nat Biotechnol
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ntsm: an alignment-free, ultra-low-coverage, sequencing technology agnostic, intraspecies sample comparison tool for sample swap detection.
De novo reconstruction of satellite repeat units from sequence data.