Author details

Full Name

Heng Li

Affiliation

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37131874	De novo reconstruction of satellite repeat units from sequence data.		2023
37918962	De novo reconstruction of satellite repeat units from sequence data.		2023
35347321	CoLoRd: compressing long reads.	Nature Methods	2022
36028900	Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres.	Genome Biol	2022
35444317	The Human Pangenome Project: a global resource to map genomic diversity.	Nature	2022
35534630	Metagenome assembly of high-fidelity long reads with hifiasm-meta.	Nature Methods	2022
35332338	Haplotype-resolved assembly of diploid genomes without parental data.	Nat Biotechnol	2022
35132260	Curated variation benchmarks for challenging medically relevant autosomal genes.	Nat Biotechnol	2022
34772935	Fast alignment and preprocessing of chromatin profiles with Chromap.	Nature Communications	2021
33593904	Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands.	Proceedings of the National Academy of Sciences of the United States of America	2021
33681998	Higher Rates of Processed Pseudogene Acquisition in Humans and Three Great Apes Revealed by Long-Read Assemblies.	Molecular Biology and Evolution	2021
33526886	Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm.	Nature Methods	2021
34158502	Comprehensive identification of transposable element insertions using multiple sequencing technologies.	Nat Commun	2021
34252938	Real-time mapping of nanopore raw signals.		2021
32966548	Bedtk: finding interval overlap with implicit interval tree.		2021
34623391	New strategies to improve minimap2 alignment accuracy.		2021
33066802	The design and construction of reference pangenome graphs with minigraph.		2020
31819265	Fast and accurate long-read assembly with wtdbg2.	Nat Methods	2020
31860070	A haplotype-aware de novo assembly of related individuals using pedigree sequence graph.	Bioinformatics	2020
30989183	Identifying centromeric satellites with dna-brnn.		2019
30808649	Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans.	Life Science Alliance	2019
31406327	Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.	Nat Biotechnol	2019
29279374	Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.	Proc Natl Acad Sci U S A	2018
30166492	Three-dimensional genome structures of single diploid human cells.	Science	2018
30013044	A synthetic-diploid benchmark for accurate variant-calling evaluation.	Nat Methods	2018
29750242	Minimap2: pairwise alignment for nucleotide sequences.		2018
28396521	Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.	Genome Res	2017
28408603	Single-cell whole-genome analyses by Linear Amplification via Transposon Insertion (LIANTI).	Science	2017
27654912	The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.	Nature	2016
27153593	Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences.		2016
26500154	BGT: efficient and flexible genotype query across many samples.		2016
26569126	The contribution of rare variation to prostate cancer heritability.	Nat Genet	2016
26220959	FermiKit: assembly-based variant calling for Illumina resequencing data.		2015
25913407	Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth.	Current Biology	2015
25581429	No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans.	Nat Genet	2015
25953801	BFC: correcting Illumina sequencing errors.		2015
25107872	Fast construction of FM-index for long sequence reads.		2014
25341783	Genome sequence of a 45,000-year-old modern human from western Siberia.	Nature	2014
24352235	The complete genome sequence of a Neanderthal from the Altai Mountains.	Nature	2014
25230663	Ancient human genomes suggest three ancestral populations for present-day Europeans.	Nature	2014
24974202	Toward better understanding of artifacts in variant calling from high-coverage samples.		2014
23435088	Using population admixture to help complete maps of the human genome.	Nat Genet	2013
23823723	Great ape genetic diversity and population history.	Nature	2013
24104757	The anatomy of successful computational biology software.	Nat Biotechnol	2013
23932108	Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes.	Am J Hum Genet	2013
23055938	The date of interbreeding between Neandertals and modern humans.	PLoS Genet	2012
22936568	A high-coverage genome sequence from an archaic Denisovan individual.	Science	2012
22922873	A direct characterization of human mutation based on microsatellites.	Nat Genet	2012
22569178	Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly.		2012
22610117	Extremely low-coverage sequencing and imputation increases power for genome-wide association studies.	Nat Genet	2012