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Heng Li · SciRah

Researcher profile · Semantic Scholar

Heng Li

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Heng Li — researcher profile on SciRah

h-index: 48
Works: 80
Citations: 152K

Most-cited papers

The Sequence Alignment/Map format and SAMtools
Heng Li, B. Handsaker, A. Wysoker, T. Fennell +5 more
2009Bioinform.58K citations Open access
Semantic Scholar
Minimap2: pairwise alignment for nucleotide sequences
Heng Li
2017Bioinform.14K citations Open access
Semantic Scholar
Twelve years of SAMtools and BCFtools
P. Danecek, J. Bonfield, J. Liddle, J. Marshall +7 more
2020GigaScience14K citations Open access
Semantic Scholar
Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM
Heng Li
201313K citations
Semantic Scholar
Fast and accurate long-read alignment with Burrows–Wheeler transform
Heng Li, R. Durbin
2010Bioinform.11K citations Open access
Semantic Scholar
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Heng Li
2011Bioinform.6,286 citations Open access
Semantic Scholar
Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm
Hao-Yu Cheng, G. Concepcion, Xiao-Wen Feng, Haowen Zhang +1 more
2021Nature Methods5,522 citations Open access
Semantic Scholar
Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry
D. Bentley, S. Balasubramanian, H. Swerdlow, G. Smith +190 more
2008Nature3,869 citations Open access
Semantic Scholar
Efficient Architecture-Aware Acceleration of BWA-MEM for Multicore Systems
Md. Vasimuddin, Sanchit Misra, Heng Li, S. Aluru
2019IEEE International Parallel and Distributed Processing Symposium2,718 citations
Semantic Scholar
The complete sequence of a human genome
S. Nurk, S. Koren, A. Rhie, Mikko Rautiainen +96 more
2021bioRxiv2,660 citations Open access
Semantic Scholar
Inference of human population history from individual whole-genome sequences.
Heng Li, R. Durbin
2011Nature1,893 citations Open access
Semantic Scholar
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang +24 more
2019Nature Biotechnology1,596 citations Open access
Semantic Scholar
Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences
Heng Li
2015Bioinform.1,444 citations Open access
Semantic Scholar
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
S. Mallick, Heng Li, Mark Lipson, I. Mathieson +75 more
2016Nature1,426 citations Open access
Semantic Scholar
New strategies to improve minimap2 alignment accuracy
Heng Li
2021Bioinform.1,155 citations Open access
Semantic Scholar
Fast and accurate long-read assembly with wtdbg2
J. Ruan, Heng Li
2019Nature Methods1,149 citations Open access
Semantic Scholar
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
Valerie A. Schneider, T. Graves-Lindsay, K. Howe, N. Bouk +34 more
2016bioRxiv1,063 citations Open access
Semantic Scholar
Inference of Human Population History From Whole Genome Sequence of A Single Individual
Heng Li, R. Durbin
2011Nature1,024 citations Open access
Semantic Scholar
A survey of sequence alignment algorithms for next-generation sequencing
Heng Li, N. Homer
2010Briefings Bioinform.974 citations Open access
Semantic Scholar
Haplotype-resolved assembly of diploid genomes without parental data
Hao-Yu Cheng, E. Jarvis, O. Fedrigo, K. Koepfli +3 more
2022Nature Biotechnology966 citations Open access
Semantic Scholar
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
P. Campbell, P. Stephens, E. Pleasance, S. O'Meara +20 more
2008Nature Genetics906 citations Open access
Semantic Scholar
Toward better understanding of artifacts in variant calling from high-coverage samples
Heng Li
2014Bioinform.875 citations Open access
Semantic Scholar
A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis
T. Down, V. Rakyan, D. Turner, P. Flicek +18 more
2008Nature Biotechnology673 citations Open access
Semantic Scholar
Bioinformatics Applications Note Sequence Analysis Tabix: Fast Retrieval of Sequence Features from Generic Tab-delimited Files
Heng Li
565 citations
Semantic Scholar
Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly
Heng Li
2012Bioinform.427 citations Open access
Semantic Scholar
3D Genome Structures of Single Diploid Human Cells
Long-Zhi Tan, D. Xing, Chi-Han Chang, Heng Li +1 more
2018Science423 citations Open access
Semantic Scholar
The Human Pangenome Project: a global resource to map genomic diversity
Ting Wang, L. Antonacci-Fulton, K. Howe, Heather A. Lawson +34 more
2022Nature404 citations Open access
Semantic Scholar
The design and construction of reference pangenome graphs with minigraph
Heng Li, Xiao-Wen Feng, Chong Chu
2020Genome Biology391 citations Open access
Semantic Scholar
HTSlib: C library for reading/writing high-throughput sequencing data
J. Bonfield, J. Marshall, P. Danecek, Heng Li +4 more
2021GigaScience357 citations Open access
Semantic Scholar
Improving SNP discovery by base alignment quality
Heng Li
2011Bioinform.311 citations Open access
Semantic Scholar
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
Allison A. Regier, Y. Farjoun, D. Larson, O. Krasheninina +16 more
2018Nature Communications229 citations Open access
Semantic Scholar
A synthetic-diploid benchmark for accurate variant calling evaluation
Heng Li, Jonathan M. Bloom, Y. Farjoun, M. Fleharty +3 more
2018Nature Methods224 citations Open access
Semantic Scholar
Curated variation benchmarks for challenging medically-relevant autosomal genes
Justin Wagner, N. Olson, Lindsay Harris, Jennifer McDaniel +33 more
2022Nature Biotechnology214 citations Open access
Semantic Scholar
Fast alignment and preprocessing of chromatin profiles with Chromap
Haowen Zhang, Li Song, Xiao-Tao Wang, Hao-Yu Cheng +8 more
2021Nature Communications200 citations Open access
Semantic Scholar
BFC: correcting Illumina sequencing errors
Heng Li
2015Bioinform.192 citations Open access
Semantic Scholar
Semi-automated assembly of high-quality diploid human reference genomes
E. Jarvis, G. Formenti, A. Rhie, A. Guarracino +79 more
2022Nature185 citations Open access
Semantic Scholar
Metagenome assembly of high-fidelity long reads with hifiasm-meta
Xiao-Wen Feng, Hao-Yu Cheng, Daniel M. Portik, Heng Li
2021Nature Methods172 citations Open access
Semantic Scholar
SOAPindel: Efficient identification of indels from short paired reads
Sheng-Ting Li, Rui-Qiang Li, Heng Li, Jianliang Lu +4 more
2013Genome Research117 citations Open access
Semantic Scholar
Comprehensive identification of transposable element insertions using multiple sequencing technologies
Chong Chu, Rebeca Borges-Monroy, Vinayak V. Viswanadham, Soohyun Lee +3 more
2021Nature Communications96 citations Open access
Semantic Scholar
FermiKit: assembly-based variant calling for Illumina resequencing data
Heng Li
2015Bioinform.96 citations Open access
Semantic Scholar
Fast construction of FM-index for long sequence reads
Heng Li
2014Bioinform.79 citations Open access
Semantic Scholar
Using population admixture to help complete maps of the human genome
G. Genovese, R. Handsaker, Heng Li, Nicolas Altemose +9 more
2013Nature Genetics67 citations Open access
Semantic Scholar
Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands
D. Xing, Long-Zhi Tan, Chi-Han Chang, Heng Li +1 more
2021Proceedings of the National Academy of Sciences of the United States of America66 citations Open access
Semantic Scholar
Efficient chromosome-scale haplotype-resolved assembly of human genomes
S. Garg, A. Fungtammasan, Andrew Carroll, Michael F. Chou +18 more
2019bioRxiv65 citations Open access
Semantic Scholar
Highly-accurate long-read sequencing improves variant detection and assembly of a human genome
A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang +24 more
2019bioRxiv62 citations Open access
Semantic Scholar
Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
K. Tan, Michael K. Slevin, M. Meyerson, Heng Li
2022Genome Biology59 citations Open access
Semantic Scholar
BGT: efficient and flexible genotype query across many samples
Heng Li
2015Bioinform.59 citations Open access
Semantic Scholar
Detecting SNPs and estimating allele frequencies in clonal bacterial populations by sequencing pooled DNA
K. Holt, Yik Y. Teo, Heng Li, S. Nair +3 more
2009Bioinform.55 citations Open access
Semantic Scholar
De novo reconstruction of satellite repeat units from sequence data
Yu-Jie Zhang, J. Chu, Hao-Yu Cheng, Heng Li
2023Genome Research48 citations Open access
Semantic Scholar
Haplotype-resolved de novo assembly with phased assembly graphs
Hao-Yu Cheng, G. Concepcion, Xiao-Wen Feng, Haowen Zhang +1 more
202046 citations
Semantic Scholar

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