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Accurate chromosome-scale haplotype-resolved assembly of human genomes
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1038/nbt.2727openalex-snapshot
Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions
inferredcites →https://doi.org/10.1038/nbt.2835openalex-snapshot
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
inferredcites →https://doi.org/10.1038/nbt.4235openalex-snapshot
A universal SNP and small-indel variant caller using deep neural networks
inferredcites →https://doi.org/10.1038/nbt.4277openalex-snapshot
De novo assembly of haplotype-resolved genomes with trio binning
inferredcites →https://doi.org/10.1038/nmeth.4035openalex-snapshot
Phased diploid genome assembly with single-molecule real-time sequencing
inferredcites →https://doi.org/10.1038/nrg2950openalex-snapshot
The importance of phase information for human genomics
inferredcites →https://doi.org/10.1038/s41467-020-20536-yopenalex-snapshot
Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C
inferredcites →https://doi.org/10.1038/s41587-019-0074-6openalex-snapshot
An open resource for accurately benchmarking small variant and reference calls
inferredcites →https://doi.org/10.1038/s41587-019-0217-9openalex-snapshot
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
inferredcites →https://doi.org/10.1038/s41592-018-0054-7openalex-snapshot
A synthetic-diploid benchmark for accurate variant-calling evaluation
inferredcites →https://doi.org/10.1093/bioinformatics/bty191openalex-snapshot
Minimap2: pairwise alignment for nucleotide sequences
inferredcites →https://doi.org/10.1093/bioinformatics/bty279openalex-snapshot
A graph-based approach to diploid genome assembly
inferredcites →https://doi.org/10.1093/bioinformatics/btz942openalex-snapshot
A haplotype-aware de novo assembly of related individuals using pedigree sequence graph
inferredcites →https://doi.org/10.1101/085050openalex-snapshot
WhatsHap: fast and accurate read-based phasing
inferredcites →https://doi.org/10.1101/221085openalex-snapshot
Significant abundance of cis configurations of mutations in diploid human genomes
inferredcites →https://doi.org/10.1101/580159openalex-snapshot
A haplotype-aware de novo assembly of related individuals using pedigree graph
inferredcites →https://doi.org/10.1101/664623openalex-snapshot
A robust benchmark for germline structural variant detection
inferredcites →https://doi.org/10.1101/gr.193474.115openalex-snapshot
Chromosome-scale shotgun assembly using an in vitro method for long-range linkage
inferredcites →https://doi.org/10.1101/gr.213462.116openalex-snapshot
HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies
inferredcites →https://doi.org/10.1101/gr.214874.116openalex-snapshot
Direct determination of diploid genome sequences
inferredcites →https://doi.org/10.1101/gr.3722605openalex-snapshot
Assembly of polymorphic genomes: Algorithms and application to Ciona savignyi
inferredcites →https://doi.org/10.1126/science.aal3327openalex-snapshot
De novo assembly of the Aedes aegypti genome using Hi-C yields chromosome-length scaffolds
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1007/978-1-0716-4702-8_2openalex-snapshot
Methods for Chromosome-Scale Haplotype Reconstruction
inferred← citeshttps://doi.org/10.1016/j.xgen.2022.100128openalex-snapshot
Benchmarking challenging small variants with linked and long reads
inferred← citeshttps://doi.org/10.1038/s41467-023-40898-3openalex-snapshot
Long-read whole-genome analysis of human single cells
inferred← citeshttps://doi.org/10.1038/s41576-020-0236-xopenalex-snapshot
Long-read human genome sequencing and its applications
inferred← citeshttps://doi.org/10.1038/s41587-020-0719-5openalex-snapshot
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads
inferred← citeshttps://doi.org/10.1038/s41588-022-01043-wopenalex-snapshot
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
inferred← citeshttps://doi.org/10.1038/s41597-020-00743-4openalex-snapshot
Highly accurate long-read HiFi sequencing data for five complex genomes
inferred← citeshttps://doi.org/10.1093/bioinformatics/btaa1034openalex-snapshot
SVIM-asm: structural variant detection from haploid and diploid genome assemblies
inferred← citeshttps://doi.org/10.1093/molbev/msab062openalex-snapshot
Higher Rates of Processed Pseudogene Acquisition in Humans and Three Great Apes Revealed by Long-Read Assemblies
inferred← citeshttps://doi.org/10.1101/2020.02.25.964445openalex-snapshot
SDip: A novel graph-based approach to haplotype-aware assembly based structural variant calling in targeted segmental duplications sequencing
inferred← citeshttps://doi.org/10.1101/2020.03.15.992941openalex-snapshot
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
inferred← citeshttps://doi.org/10.1101/2020.04.24.060202openalex-snapshot
Leveraging a WGS compression and indexing format with dynamic graph references to call structural variants
inferred← citeshttps://doi.org/10.1101/2020.06.01.126995openalex-snapshot
Haplotype-Resolved Assembly for Synthetic Long Reads Using a Trio-Binning Strategy
inferred← citeshttps://doi.org/10.1101/2021.06.28.450238openalex-snapshot
Improving long-read consensus sequencing accuracy with deep learning
inferred← citeshttps://doi.org/10.1101/2022.06.08.494096openalex-snapshot
Genomics of cold adaptations in the Antarctic notothenioid fish radiation
inferred← citeshttps://doi.org/10.1101/gr.263566.120openalex-snapshot
HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
inferred← citeshttps://doi.org/10.1126/science.abf7117openalex-snapshot
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
inferred← citeshttps://doi.org/10.1186/s13059-020-02134-9openalex-snapshot
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
inferred← citeshttps://doi.org/10.1186/s13059-020-02168-zopenalex-snapshot
The design and construction of reference pangenome graphs with minigraph
inferred← citeshttps://doi.org/10.1186/s13059-020-02235-5openalex-snapshot
Gamete binning: chromosome-level and haplotype-resolved genome assembly enabled by high-throughput single-cell sequencing of gamete genomes
inferred← citeshttps://doi.org/10.1186/s13059-021-02430-yopenalex-snapshot
Telomere-to-telomere assembly of a fish Y chromosome reveals the origin of a young sex chromosome pair
inferred← citeshttps://doi.org/10.2217/pgs-2020-0155openalex-snapshot
Potential of Whole-Genome Sequencing-Based Pharmacogenetic Profiling
inferred← citeshttps://doi.org/10.3390/genes12010048openalex-snapshot
Probably Correct: Rescuing Repeats with Short and Long Reads
inferred← citeshttps://doi.org/10.4018/979-8-3693-8603-3.ch004openalex-snapshot
Genome Assembly of Canola Plant (Brassica napus)
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