Evidence map›Paper›PMID 30346939›Full record

ArticleNature biotechnology2018

De novo assembly of haplotype-resolved genomes with trio binning.

Sergey Koren, Arang Rhie, Brian P Walenz, Alexander T Dilthey, Derek M Bickhart, Sarah B Kingan, Stefan Hiendleder, John L Williams, Timothy P L Smith, Adam M Phillippy

Abstract read
In one paragraph

Article in Nature biotechnology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 297 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
297citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

297 citing papers in PubMed, 1 synthesis or guideline pooled it.

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237 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

10 authors.

Sergey KorenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
Arang RhieGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.ORCID http://orcid.org/0000-0002-9809-8127
Brian P WalenzGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
Alexander T DiltheyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.ORCID http://orcid.org/0000-0002-6394-4581
Derek M BickhartCell Wall Biology and Utilization Laboratory, ARS USDA, Madison, Wisconsin, USA.ORCID http://orcid.org/0000-0003-2223-9285
Sarah B KinganPacific Biosciences, Menlo Park, California, USA.ORCID http://orcid.org/0000-0002-4900-0189
Stefan HiendlederDavies Research Centre, School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy SA, Australia.ORCID http://orcid.org/0000-0001-6222-3240
John L WilliamsDavies Research Centre, School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy SA, Australia.ORCID http://orcid.org/0000-0001-5188-7957
Timothy P L SmithUS Meat Animal Research Center, ARS USDA, Clay Center, Nebraska, USA.
Adam M PhillippyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

Funding

Single-molecule sequence assembly and analysisZIAHG200398 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PHILLIPPY, ADAM · 2016 to 2025
$15.9M
Intramural NIH HHS ZIA HG200398
6 · The paper itself

Abstract

Complex allelic variation hampers the assembly of haplotype-resolved sequences from diploid genomes. We developed trio binning, an approach that simplifies haplotype assembly by resolving allelic variation before assembly. In contrast with prior approaches, the effectiveness of our method improved with increasing heterozygosity. Trio binning uses short reads from two parental genomes to first partition long reads from an offspring into haplotype-specific sets. Each haplotype is then assembled independently, resulting in a complete diploid reconstruction. We used trio binning to recover both haplotypes of a diploid human genome and identified complex structural variants missed by alternative approaches. We sequenced an F1 cross between the cattle subspecies Bos taurus taurus and Bos taurus indicus and completely assembled both parental haplotypes with NG50 haplotig sizes of >20 Mb and 99.998% accuracy, surpassing the quality of current cattle reference genomes. We suggest that trio binning improves diploid genome assembly and will facilitate new studies of haplotype variation and inheritance.

Identifiers

PMID30346939
PMCPMC6476705

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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.