Evidence map›Paper›PMID 32686750›Full record

ArticleNature biotechnology2020

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes.

Kishwar Shafin, Trevor Pesout, Ryan Lorig-Roach, Marina Haukness, Hugh E Olsen, Colleen Bosworth, Joel Armstrong, Kristof Tigyi, Nicholas Maurer, Sergey Koren and 22 more

Abstract read
In one paragraph

Article in Nature biotechnology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 321 papers.

0numbers the graph read from it
0cells of the map it votes in
321citing 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

321 citing papers in PubMed.

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  10. Biosensing With Nanofluidics.Exploration (Beijing, China) · 2026
    Review
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261 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

32 authors.

Kishwar Shafin *UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.ORCID http://orcid.org/0000-0001-5252-3434
Trevor Pesout *UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Ryan Lorig-Roach *UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Marina Haukness *UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Hugh E Olsen *UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Colleen BosworthUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Joel ArmstrongUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Kristof TigyiUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Nicholas MaurerUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.ORCID http://orcid.org/0000-0003-0007-7887
Sergey KorenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-1472-8962
Fritz J SedlazeckBaylor College of Medicine, Human Genome Sequencing Center, Houston, TX, USA.ORCID http://orcid.org/0000-0001-6040-2691
Tobias MarschallMax Planck Institute for Informatics, Saarbrücken, Germany.ORCID http://orcid.org/0000-0002-9376-1030
Simon MayesOxford Nanopore Technologies, Oxford, UK.
Vania CostaOxford Nanopore Technologies, Oxford, UK.
Justin M ZookNational Institute of Standards and Technology, Gaithersburg, MD, USA.
Kelvin J LiuCirculomics Inc., Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-1164-582X
Duncan KilburnCirculomics Inc., Baltimore, MD, USA.
Melanie SorensenDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Katy M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-8413-6498
Mitchell R VollgerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-8651-1615
Jean MonlongUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Erik GarrisonUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Evan E EichlerHoward Hughes Medical Institute, University of California, Santa Cruz, CA, USA.
Sofie SalamaUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
David HausslerUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Richard E GreenUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Mark AkesonUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.ORCID http://orcid.org/0000-0001-9392-8075
Adam PhillippyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-2983-8934
Karen H MigaUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.
Paolo CarnevaliChan Zuckerberg Initiative, Redwood City, CA, USA. paolo@chanzuckerberg.com.
Miten JainUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA. miten@soe.ucsc.edu.ORCID http://orcid.org/0000-0002-4571-3982
Benedict PatenUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA. bpaten@ucsc.edu.ORCID http://orcid.org/0000-0001-8863-3539

Funding

The AnVIL Data Ecosystem DACReS SupplementU24HG010262 · NHGRI · BROAD INSTITUTE, INC. · PI Robert J Carroll, Jonathan Lawson · 2018 to 2026
$40.5M
The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ira M Hall, Heng Li · 2019 to 2026
$24.9M
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
GENCODE Resource ProjectU41HG007234 · NHGRI · SANGER INSTITUTE · PI FLICEK, PAUL · 2013 to 2020
$20.3M
ELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4M
Single-molecule sequence assembly and analysisZIAHG200398 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PHILLIPPY, ADAM · 2016 to 2025
$15.9M
Training SubprojectU54HG007990 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H, PATTERSON, DAVID · 2014 to 2018
$14.8M
A Unified Nanopore Platform for Direct Sequencing of Individual Full Length RNA Strands Bearing Modified NucleotidesR01HG010053 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI AKESON, MARK A · 2018 to 2021
$3.8M
Comprehensive, Flexible and FAIR Tools for the HuBMAP HIVEOT2OD026682 · OD · CARNEGIE-MELLON UNIVERSITY · PI PATEN, BENEDICT, RUFFALO, MATTHEW · 2018 to 2021
$3.4M
The construction and utility of reference pan-genome graphsU01HG010961 · NHGRI · DANA-FARBER CANCER INST · PI LI, HENG, PATEN, BENEDICT · 2020 to 2023
$3.2M
Dockstore - A Platform for Sharing Tools & Workflows on the Cloud CommonsR01HG009737 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI PATEN, BENEDICT, PHILIPPAKIS, ANTHONY · 2017 to 2020
$3.0M
Evolution of new regulatory networks via genetic arms races between KRAB zinc finger proteins and retrotransposonsR01HG010329 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI SALAMA, SOFIE REDA · 2019 to 2022
$2.7M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG009737NHGRI NIH HHS R01 HG010053NHGRI NIH HHS R01 HG010329NHGRI NIH HHS R01 HG010485NHGRI NIH HHS R03 HG009730NHGRI NIH HHS R43 HG009859NHGRI NIH HHS T32 HG008345NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U24 HG009084NHGRI NIH HHS U24 HG010262NHGRI NIH HHS U41 HG007234NHGRI NIH HHS U41 HG010972NHGRI NIH HHS U54 HG007990NHLBI NIH HHS OT3 HL142481NHLBI NIH HHS U01 HL137183NIGMS NIH HHS R44 GM134994NIH HHS OT2 OD026682
6 · The paper itself

Abstract

De novo assembly of a human genome using nanopore long-read sequences has been reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable rapid human genome assembly, we present Shasta, a de novo long-read assembler, and polishing algorithms named MarginPolish and HELEN. Using a single PromethION nanopore sequencer and our toolkit, we assembled 11 highly contiguous human genomes de novo in 9 d. We achieved roughly 63× coverage, 42-kb read N50 values and 6.5× coverage in reads >100 kb using three flow cells per sample. Shasta produced a complete haploid human genome assembly in under 6 h on a single commercial compute node. MarginPolish and HELEN polished haploid assemblies to more than 99.9% identity (Phred quality score QV = 30) with nanopore reads alone. Addition of proximity-ligation sequencing enabled near chromosome-level scaffolds for all 11 genomes. We compare our assembly performance to existing methods for diploid, haploid and trio-binned human samples and report superior accuracy and speed.

Indexed as

Nanopore SequencingAlgorithmsBenchmarkingChromosomes, HumanDeep LearningGenome, HumanGenomicsHaploidyHigh-Throughput Nucleotide SequencingHLA AntigensHumansSequence Analysis, DNAHLA Antigens

Identifiers

PMID32686750
PMCPMC7483855

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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.