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How well can we create phased, diploid, human genomes?: An assessment of FALCON-Unzip phasing using a human trio

https://doi.org/10.1101/262196
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1007/s13577-017-0168-8openalex-snapshot
Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area
inferredcites →https://doi.org/10.1016/j.gpb.2015.08.002openalex-snapshot
PacBio Sequencing and its Applications
inferredcites →https://doi.org/10.1016/j.tig.2010.05.003openalex-snapshot
Evolution of the mutation rate
inferredcites →https://doi.org/10.1038/35048692openalex-snapshot
Analysis of the genome sequence of the flowering plant Arabidopsis thaliana
inferredcites →https://doi.org/10.1038/35057062openalex-snapshot
Initial sequencing and analysis of the human genome
inferredcites →https://doi.org/10.1038/nature20098openalex-snapshot
De novo assembly and phasing of a Korean human genome
inferredcites →https://doi.org/10.1038/nbt.2065openalex-snapshot
Performance comparison of whole-genome sequencing platforms
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/nrg3054openalex-snapshot
Haplotype phasing: existing methods and new developments
inferredcites →https://doi.org/10.1038/sdata.2016.25openalex-snapshot
Extensive sequencing of seven human genomes to characterize benchmark reference materials
inferredcites →https://doi.org/10.1093/bioinformatics/btp324openalex-snapshot
Fast and accurate short read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1093/bioinformatics/btp698openalex-snapshot
Fast and accurate long-read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1093/bioinformatics/bts503openalex-snapshot
Qualimap: evaluating next-generation sequencing alignment data
inferredcites →https://doi.org/10.1093/bioinformatics/btv351openalex-snapshot
BUSCO: assessing genome assembly and annotation completeness with single-copy orthologs
inferredcites →https://doi.org/10.1093/bioinformatics/btv566openalex-snapshot
Qualimap 2: advanced multi-sample quality control for high-throughput sequencing data
inferredcites →https://doi.org/10.1093/bioinformatics/btw369openalex-snapshot
Assemblytics: a web analytics tool for the detection of variants from an assembly
inferredcites →https://doi.org/10.1093/molbev/msj050openalex-snapshot
The Origins of Eukaryotic Gene Structure
inferredcites →https://doi.org/10.1101/115717openalex-snapshot
The Sentieon Genomics Tools - A fast and accurate solution to variant calling from next-generation sequence data
inferredcites →https://doi.org/10.1101/gr.180893.114openalex-snapshot
Single haplotype assembly of the human genome from a hydatidiform mole
inferredcites →https://doi.org/10.1101/gr.185892.114openalex-snapshot
Accurate typing of short tandem repeats from genome-wide sequencing data and its applications
inferredcites →https://doi.org/10.1101/gr.213611.116openalex-snapshot
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
inferredcites →https://doi.org/10.1111/1755-0998.12245openalex-snapshot
The effects of read length, quality and quantity on microsatellite discovery and primer development: from I llumina to P ac B io
inferredcites →https://doi.org/10.1126/science.1162986openalex-snapshot
Real-Time DNA Sequencing from Single Polymerase Molecules
inferredcites →https://doi.org/10.1186/1471-2164-13-341openalex-snapshot
A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers
inferredcites →https://doi.org/10.1186/1471-2164-14-670openalex-snapshot
An evaluation of the PacBio RS platform for sequencing and de novo assembly of a chloroplast genome
inferredcites →https://doi.org/10.1186/1471-2164-15-699openalex-snapshot
Performance comparison of second- and third-generation sequencers using a bacterial genome with two chromosomes
inferredcites →https://doi.org/10.1186/gb-2004-5-2-r12openalex-snapshot
Versatile and open software for comparing large genomes
inferredcites →https://doi.org/10.1371/journal.pbio.0050254openalex-snapshot
The Diploid Genome Sequence of an Individual Human
inferredcites →https://doi.org/10.1371/journal.pone.0019175openalex-snapshot
Comparing De Novo Genome Assembly: The Long and Short of It
inferredcites →https://doi.org/10.1371/journal.pone.0047768openalex-snapshot
Mind the Gap: Upgrading Genomes with Pacific Biosciences RS Long-Read Sequencing Technology
inferredcites →https://doi.org/10.3389/fmicb.2017.01448openalex-snapshot
PacBio But Not Illumina Technology Can Achieve Fast, Accurate and Complete Closure of the High GC, Complex Burkholderia pseudomallei Two-Chromosome Genome

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1038/s41467-018-08260-0openalex-snapshot
Chromosome-level assembly of the water buffalo genome surpasses human and goat genomes in sequence contiguity
inferred← citeshttps://doi.org/10.1038/s41467-020-20536-yopenalex-snapshot
Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C
inferred← citeshttps://doi.org/10.1038/s41587-019-0217-9openalex-snapshot
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
inferred← citeshttps://doi.org/10.3410/f.736409526.793565413openalex-snapshot
Faculty Opinions recommendation of Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
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