Evidence map›Paper›PMID 38627094›Full record

ArticleGenome research2024

Phased nanopore assembly with Shasta and modular graph phasing with GFAse.

Ryan Lorig-Roach, Melissa Meredith, Jean Monlong, Miten Jain, Hugh E Olsen, Brandy McNulty, David Porubsky, Tessa G Montague, Julian K Lucas, Chris Condon and 13 more

Abstract read
In one paragraph

Article in Genome research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
–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

23 citing papers in PubMed.

  1. Article
  2. Evolution of compound eye cell types shapes visual behaviors acrossbioRxiv : the preprint server for biology · 2026
    Article
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  8. Efficient near telomere-to-telomere assembly of Nanopore Simplex reads.bioRxiv : the preprint server for biology · 2025
    Article
  9. A non-invasive method to genotype cephalopod sex by quantitative PCR.bioRxiv : the preprint server for biology · 2025
    Article
  10. Article
  11. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors.

Ryan Lorig-RoachUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA; rlorigro@ucsc.edu pacarnev@ucsc.edu bpaten@ucsc.edu.
Melissa MeredithUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Jean MonlongUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Miten JainDepartment of Bioengineering, Department of Physics, Northeastern University, Boston, Massachusetts 02120, USA.
Hugh E OlsenUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Brandy McNultyUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
Tessa G MontagueThe Mortimer B. Zuckerman Mind Brain Behavior Institute, Department of Neuroscience, Columbia University, New York, New York 10027, USA.
Julian K LucasUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Chris CondonUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Jordan M EizengaUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Sissel JuulOxford Nanopore Technologies Incorporated, New York, New York 10013, USA.
Sean K McKenzieOxford Nanopore Technologies Incorporated, New York, New York 10013, USA.
Sara E SimmondsChan Zuckerberg Initiative Foundation, Redwood City, California 94063, USA.
Jimin ParkUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Mobin AsriUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Sergey KorenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20894, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.ORCID 0000-0002-8246-4014
Richard AxelThe Mortimer B. Zuckerman Mind Brain Behavior Institute, Department of Neuroscience, Columbia University, New York, New York 10027, USA.
Bruce MartinChan Zuckerberg Initiative Foundation, Redwood City, California 94063, USA.
Paolo CarnevaliChan Zuckerberg Initiative Foundation, Redwood City, California 94063, USA; rlorigro@ucsc.edu pacarnev@ucsc.edu bpaten@ucsc.edu.
Karen H MigaUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA.
Benedict PatenUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA; rlorigro@ucsc.edu pacarnev@ucsc.edu bpaten@ucsc.edu.

Funding

The AnVIL Data Ecosystem DACReS SupplementU24HG010262 · NHGRI · BROAD INSTITUTE, INC. · PI Robert J Carroll, Jonathan Lawson · 2018 to 2026
$40.5M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142481 · NHLBI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI GROSSMAN, ROBERT L., PATEN, BENEDICT · 2017 to 2020
$24.9M
Dockstore: The Community Platform for Reproducible Biomedical Workflows and ApplicationsU24HG011853 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Jonathan Lawson, Benedict Paten · 2021 to 2026
$5.7M
Computational tools for uniform processing and integration of human reference atlas data [2 of 5]OT2OD033761 · OD · CARNEGIE-MELLON UNIVERSITY · PI PATEN, BENEDICT, RUFFALO, MATTHEW · 2022 to 2025
$4.2M
The construction and utility of reference pan-genome graphsU01HG010961 · NHGRI · DANA-FARBER CANCER INST · PI LI, HENG, PATEN, BENEDICT · 2020 to 2023
$3.2M
Enabling Comparative PangenomicsR01HG010485 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H, MARTIN, FERGAL JAMES · 2020 to 2023
$2.6M
NHGRI NIH HHS R01 HG010485NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U24 HG010262NHGRI NIH HHS U24 HG011853NHLBI NIH HHS OT3 HL142481NIH HHS OT2 OD033761
6 · The paper itself

Abstract

Reference-free genome phasing is vital for understanding allele inheritance and the impact of single-molecule DNA variation on phenotypes. To achieve thorough phasing across homozygous or repetitive regions of the genome, long-read sequencing technologies are often used to perform phased de novo assembly. As a step toward reducing the cost and complexity of this type of analysis, we describe new methods for accurately phasing Oxford Nanopore Technologies (ONT) sequence data with the Shasta genome assembler and a modular tool for extending phasing to the chromosome scale called GFAse. We test using new variants of ONT PromethION sequencing, including those using proximity ligation, and show that newer, higher accuracy ONT reads substantially improve assembly quality.

Indexed as

NanoporesGenomicsHigh-Throughput Nucleotide SequencingHumansNanopore SequencingSequence Analysis, DNASoftware

Identifiers

PMID38627094
PMCPMC11067879

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.