Evidence map›Paper›PMID 34504351›Full record

ArticleNature biotechnology2021

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.

Jonathan Foox, Scott W Tighe, Charles M Nicolet, Justin M Zook, Marta Byrska-Bishop, Wayne E Clarke, Michael M Khayat, Medhat Mahmoud, Phoebe K Laaguiby, Zachary T Herbert and 17 more

Erratum issuedAbstract readValidation Study
In one paragraph

Article in Nature biotechnology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 77 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed, 3 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

77 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Diagnostic accuracy of the metagenomic next-generation sequencing (mNGS) for detection of bacterial meningoencephalitis: a systematic review and meta-analysis.European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology · 2022
    Pooled it
  4. Short-Read Sequencing Benchmarking with Donor-Specific Assemblies.bioRxiv : the preprint server for biology · 2026
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17 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Jonathan FooxDepartment of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.
Scott W TigheUniversity of Vermont Cancer Center, Vermont Integrative Genomics Resource, University of Vermont, Burlington, VT, USA.ORCID http://orcid.org/0000-0002-3988-0741
Charles M NicoletKeck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Justin M ZookBiosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.ORCID http://orcid.org/0000-0003-2309-8402
Marta Byrska-BishopNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-9118-1032
Wayne E ClarkeNew York Genome Center, New York, NY, USA.
Michael M KhayatHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0001-5452-3147
Medhat MahmoudHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-2553-4231
Phoebe K LaaguibyUniversity of Vermont Cancer Center, Vermont Integrative Genomics Resource, University of Vermont, Burlington, VT, USA.
Zachary T HerbertMolecular Biology Core Facilities, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0001-9401-2464
Derek WarnerDNA Sequencing Core, University of Utah, Salt Lake City, UT, USA.
George S GrillsSylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA.
Jin JenDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Shawn LevyHudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.ORCID http://orcid.org/0000-0002-1369-5740
Jenny XiangDepartment of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.
Alicia AlonsoDepartment of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.
Xia ZhaoBGI-Shenzhen, Shenzhen, China.
Wenwei ZhangBGI-Shenzhen, Shenzhen, China.
Fei TengBGI-Shenzhen, Shenzhen, China.ORCID http://orcid.org/0000-0003-4913-7094
Yonggang ZhaoBGI-Shenzhen, Shenzhen, China.
Haorong LuBGI-Shenzhen, Shenzhen, China.ORCID http://orcid.org/0000-0003-0132-8166
Gary P SchrothIllumina, Inc., San Diego, CA, USA.ORCID http://orcid.org/0000-0002-3055-056X
Giuseppe NarzisiNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0003-1118-8849
William FarmerieInterdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA.ORCID http://orcid.org/0000-0002-1627-8774
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.ORCID http://orcid.org/0000-0001-6040-2691
Don A BaldwinDepartment of Pathology, Fox Chase Cancer Center, Philadelphia, PA, USA. donald.baldwin@fccc.edu.ORCID http://orcid.org/0000-0002-1853-9253
Christopher E MasonDepartment of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA. chm2042@med.cornell.edu.ORCID http://orcid.org/0000-0002-1850-1642

Funding

Genomic Architecture of Common Disease in Diverse Populations: WGS of Ongoing Hemorrhagic Stroke Study SupplementUM1HG008898 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2016 to 2020
$77.0M
Epigenome Interactions in Complex Neurogenetic DisordersR01NS076465 · NINDS · WEILL MEDICAL COLL OF CORNELL UNIV · PI MASON, CHRISTOPHER EDWARD, ROSS, MARGARET ELIZABETH · 2011 to 2015
$5.8M
Defining the role of the RNA modification N6-methyladenosine in the hepatitis C virus lifecycleR01AI125416 · NIAID · DUKE UNIVERSITY · PI Stacy Michelle Horner · 2016 to 2026
$5.5M
Supplement for MINI point-of-use deviceU01DA053941 · NIDA · UNIVERSITY OF MIAMI CORAL GABLES · PI MASON, CHRISTOPHER EDWARD, SCHURER, STEPHAN C · 2021 to 2022
$5.2M
Metagenomic profiling of urinary cell-free DNA to monitor urinary tract infection after kidney transplantationR01AI151059 · NIAID · CORNELL UNIVERSITY · PI DADHANIA, DARSHANA, DE VLAMINCK, IWIJN · 2020 to 2024
$3.4M
The Spatiotemporal Landscape of the Human Brain EpitranscriptomeR01MH117406 · NIMH · WEILL MEDICAL COLL OF CORNELL UNIV · PI MASON, CHRISTOPHER EDWARD · 2018 to 2022
$3.3M
Study of Neural Tube Defects Etiology: Genome and ExposomeR01ES021006 · NIEHS · UNIVERSITY OF TEXAS AT AUSTIN · PI FINNELL, RICHARD H., MASON, CHRISTOPHER EDWARD · 2012 to 2014
$1.0M
Community Research Education and Engagement for Data Science (CREEDS)R25EB020393 · NIBIB · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI CLAUDIO, LUZ, KOVATCH, PATRICIA · 2015 to 2017
$578k
Mapping the RNA modification N6-methyladenosine during Zika virus infectionR21AI129851 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI HORNER, STACY MICHELLE, MASON, CHRISTOPHER EDWARD · 2017 to 2018
$469k
NHGRI NIH HHS UM1 HG008898NIAID NIH HHS R01 AI125416NIAID NIH HHS R01 AI151059NIAID NIH HHS R21 AI129851NIBIB NIH HHS R25 EB020393NIDA NIH HHS U01 DA053941NIEHS NIH HHS R01 ES021006NIMH NIH HHS R01 MH117406NINDS NIH HHS R01 NS076465
6 · The paper itself

Abstract

Assessing the reproducibility, accuracy and utility of massively parallel DNA sequencing platforms remains an ongoing challenge. Here the Association of Biomolecular Resource Facilities (ABRF) Next-Generation Sequencing Study benchmarks the performance of a set of sequencing instruments (HiSeq/NovaSeq/paired-end 2 × 250-bp chemistry, Ion S5/Proton, PacBio circular consensus sequencing (CCS), Oxford Nanopore Technologies PromethION/MinION, BGISEQ-500/MGISEQ-2000 and GS111) on human and bacterial reference DNA samples. Among short-read instruments, HiSeq 4000 and X10 provided the most consistent, highest genome coverage, while BGI/MGISEQ provided the lowest sequencing error rates. The long-read instrument PacBio CCS had the highest reference-based mapping rate and lowest non-mapping rate. The two long-read platforms PacBio CCS and PromethION/MinION showed the best sequence mapping in repeat-rich areas and across homopolymers. NovaSeq 6000 using 2 × 250-bp read chemistry was the most robust instrument for capturing known insertion/deletion events. This study serves as a benchmark for current genomics technologies, as well as a resource to inform experimental design and next-generation sequencing variant calling.

Indexed as

Base Pair MismatchBenchmarkingDNADNA, BacterialGenome, BacterialGenome, HumanHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNADNADNA, Bacterial

Identifiers

PMID34504351
PMCPMC8985210

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Registered trials

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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.