Evidence map›Paper›PMID 33911078›Full record

ArticleNature communications2021

Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C.

Zev N Kronenberg, Arang Rhie, Sergey Koren, Gregory T Concepcion, Paul Peluso, Katherine M Munson, David Porubsky, Kristen Kuhn, Kathryn A Mueller, Wai Yee Low and 11 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers.

0numbers the graph read from it
0cells of the map it votes in
88citing papers in PubMed
22.8field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

88 citing papers in PubMed, 130 citations in OpenAlex.

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28 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors at 9 institutions in 3 countries.

Zev N KronenbergPhase Genomics, Seattle, WA, USA. zkronenberg@pacificbiosciences.com.ORCID 0000-0002-7627-9808
Arang RhieGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
Sergey KorenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, MD, USA.ORCID 0000-0002-1472-8962
Gregory T ConcepcionPacific Biosciences, Menlo Park, CA, USA.ORCID 0000-0001-5921-2022
Paul PelusoPacific Biosciences, Menlo Park, CA, USA.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Kristen KuhnUS Meat Animal Research Center, ARS USDA, Clay Center, NE, USA.
Kathryn A MuellerPhase Genomics, Seattle, WA, USA.
Wai Yee LowDavies Research Centre, School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, SA, Australia.ORCID 0000-0002-0749-765X
Stefan HiendlederDavies Research Centre, School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, SA, Australia.ORCID 0000-0001-6222-3240
Olivier FedrigoVertebrate Genomes Laboratory, The Rockefeller University, New York, NY, USA.
Ivan LiachkoPhase Genomics, Seattle, WA, USA.
Richard J HallPacific Biosciences, Menlo Park, CA, USA.ORCID 0000-0001-6490-8227
Adam M PhillippyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, MD, USA.ORCID 0000-0003-2983-8934
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
John L WilliamsDavies Research Centre, School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, SA, Australia.ORCID 0000-0001-5188-7957
Timothy P L SmithUS Meat Animal Research Center, ARS USDA, Clay Center, NE, USA.ORCID 0000-0003-1611-6828
Erich D JarvisLaboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-8931-5049
Shawn T SullivanPhase Genomics, Seattle, WA, USA.
Sarah B KinganPacific Biosciences, Menlo Park, CA, USA. skingan@pacificbiosciences.com.ORCID 0000-0002-4900-0189
ID Genomics (United States) · USPacific Biosciences (United States) · USNational Human Genome Research Institute · USHoward Hughes Medical Institute · USRoman L. Hruska U.S. Meat Animal Research Center · USThe University of Adelaide · AUUniversity of Washington · USRockefeller University · USUniversità Cattolica del Sacro Cuore · IT

Funding

Single-molecule sequence assembly and analysisZIAHG200398 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PHILLIPPY, ADAM · 2016 to 2025
$15.9M
Howard Hughes Medical Institute
6 · The paper itself

Abstract

Haplotype-resolved genome assemblies are important for understanding how combinations of variants impact phenotypes. To date, these assemblies have been best created with complex protocols, such as cultured cells that contain a single-haplotype (haploid) genome, single cells where haplotypes are separated, or co-sequencing of parental genomes in a trio-based approach. These approaches are impractical in most situations. To address this issue, we present FALCON-Phase, a phasing tool that uses ultra-long-range Hi-C chromatin interaction data to extend phase blocks of partially-phased diploid assembles to chromosome or scaffold scale. FALCON-Phase uses the inherent phasing information in Hi-C reads, skipping variant calling, and reduces the computational complexity of phasing. Our method is validated on three benchmark datasets generated as part of the Vertebrate Genomes Project (VGP), including human, cow, and zebra finch, for which high-quality, fully haplotype-resolved assemblies are available using the trio-based approach. FALCON-Phase is accurate without having parental data and performance is better in samples with higher heterozygosity. For cow and zebra finch the accuracy is 97% compared to 80-91% for human. FALCON-Phase is applicable to any draft assembly that contains long primary contigs and phased associate contigs.

Indexed as

AlgorithmsAnimalsCattleContig MappingGenome, HumanHaplotypesHigh-Throughput Nucleotide SequencingHumansPolymorphism, Single NucleotideSequence Analysis, DNAZebrafish

Identifiers

PMID33911078
PMCPMC8081726
OpenAlexW3159918988

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.