2024
Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph
Cheng H, Asri M, Lucas J, Koren S, Li H. Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph. Nature Methods 2024, 21: 967-970. PMID: 38730258, PMCID: PMC11214949, DOI: 10.1038/s41592-024-02269-8.Peer-Reviewed Original Research
2023
De novo reconstruction of satellite repeat units from sequence data
Zhang Y, Chu J, Cheng H, Li H. De novo reconstruction of satellite repeat units from sequence data. Genome Research 2023, 33: 1994-2001. PMID: 37918962, PMCID: PMC10760446, DOI: 10.1101/gr.278005.123.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsAnimalsDNA, SatelliteHumansRepetitive Sequences, Nucleic AcidSequence Analysis, DNAConceptsSatellite repeat unitSequence dataSatellite repeatsLong tandem repeated sequencesReal sequencing dataSatellite DNA evolutionTandem repeat sequencesDe novo reconstructionRepeat unitsGenomic contentGenome sequenceSatellite DNADNA evolutionModel organismsGenomeComplete assemblySequenceRepeatsCentromereAssemblyDNASpeciesAnnotation
2021
Real-time mapping of nanopore raw signals
Zhang H, Li H, Jain C, Cheng H, Au K, Li H, Aluru S. Real-time mapping of nanopore raw signals. Bioinformatics 2021, 37: i477-i483. PMID: 34252938, PMCID: PMC8336444, DOI: 10.1093/bioinformatics/btab264.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsGenomeHigh-Throughput Nucleotide SequencingNanoporesSequence Analysis, DNASoftwareConceptsRaw signalsBase-calling procedureLibrary preparation protocolState-of-the-artK-d treeSeed selection strategySupplementary dataGreen algaeTarget sequenceStreaming methodSequencing devicesGenomeSignal spaceAdapter sequencesSelection strategyChain algorithmSequenceBioinformaticsReal timeMapping accuracySignal characteristicsMapping methodRead signalSeedYeastHaplotype-resolved de novo assembly using phased assembly graphs with hifiasm
Cheng H, Concepcion G, Feng X, Zhang H, Li H. Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm. Nature Methods 2021, 18: 170-175. PMID: 33526886, PMCID: PMC7961889, DOI: 10.1038/s41592-020-01056-5.Peer-Reviewed Original ResearchConceptsHaplotype-resolved de novo assembliesAssembly graphStudy of sequence variationHaplotype-resolved assembliesDe novo assemblyGraph-based assemblersConsensus copyHaplotype informationSequence readsHexaploid genomeTrio binningSequence variationHifiasmHeterozygous allelesHaplotypesGenomeCalifornia redwoodBinning algorithmAssemblyHexaploidAllelesCopy
2020
Chromosome-scale, haplotype-resolved assembly of human genomes
Garg S, Fungtammasan A, Carroll A, Chou M, Schmitt A, Zhou X, Mac S, Peluso P, Hatas E, Ghurye J, Maguire J, Mahmoud M, Cheng H, Heller D, Zook J, Moemke T, Marschall T, Sedlazeck F, Aach J, Chin C, Church G, Li H. Chromosome-scale, haplotype-resolved assembly of human genomes. Nature Biotechnology 2020, 39: 309-312. PMID: 33288905, PMCID: PMC7954703, DOI: 10.1038/s41587-020-0711-0.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsChromosomes, HumanGenome, HumanHaplotypesHeterozygoteHumansPolymorphism, Single NucleotideConceptsHaplotype-resolved assembliesHuman genomeStructural variantsAssembly of human genomesDiscovery of structural variantsChromosome-scale phasingComplex genetic variationKiller cell immunoglobulin-like receptorsChromosome-scaleDiploid assemblyHaplotype-resolvedContig lengthGenome assemblyHeterozygous sitesTransposon insertionHaplotype variationGenetic variationPedigree informationGenomePhase assemblyPrecision medicineHuman leukocyte antigenImmunoglobulin-like receptorsAssemblyImportant regions
2017
FMtree: a fast locating algorithm of FM-indexes for genomic data
Cheng H, Wu M, Xu Y. FMtree: a fast locating algorithm of FM-indexes for genomic data. Bioinformatics 2017, 34: 416-424. PMID: 28968761, DOI: 10.1093/bioinformatics/btx596.Peer-Reviewed Original ResearchConceptsFull-text indexGenomic dataState-of-the-art algorithmsMultiway treeLocation algorithmLocation operationsState-of-the-artFM-indexTree-based algorithmsPosition of patternsMemory-efficientLong textData localitySupplementary dataOccurrence positionSuffix treeSuffix arrayShort patternsAlgorithmBioinformaticsExperimental resultsTreesTextOperationTask
2015
BitMapper: an efficient all-mapper based on bit-vector computing
Cheng H, Jiang H, Yang J, Xu Y, Shang Y. BitMapper: an efficient all-mapper based on bit-vector computing. BMC Bioinformatics 2015, 16: 192. PMID: 26063651, PMCID: PMC4462005, DOI: 10.1186/s12859-015-0626-9.Peer-Reviewed Original ResearchConceptsNext-generation sequencingMapping next-generation sequencingState-of-the-art all-mappersState-of-the-artReference genomeRaw readsBit-vector algorithmMap locationBit-vectorGPL licenseEdit distanceVerification timeGenomeRunning timeData setsComputational challengesExperimental resultsIndelsHttp://homeVerificationSequenceAlgorithmMultiple locations
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