Evidence map›Paper›PMID 39152166›Full record

ArticleScientific data2024

Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing.

Binsheng Gong, Dan Li, Paweł P Łabaj, Bohu Pan, Natalia Novoradovskaya, Danielle Thierry-Mieg, Jean Thierry-Mieg, Guangchun Chen, Anne Bergstrom Lucas, Jennifer S LoCoco and 15 more

Abstract readDataset
In one paragraph

Article in Scientific data, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Review
  7. Article
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

25 authors.

Binsheng Gong *Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.ORCID 0000-0002-8724-5435
Dan Li *Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.
Paweł P Łabaj *Małopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland.ORCID 0000-0002-4994-0234
Bohu PanDivision of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.
Natalia NovoradovskayaAgilent Technologies, Inc., 11011 N Torrey Pines Rd., La Jolla, CA, 92037, USA.
Danielle Thierry-MiegNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD, 20894, USA.
Jean Thierry-MiegNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD, 20894, USA.ORCID 0000-0002-0396-6789
Guangchun ChenDepartment of Immunology, Genomics and Microarray Core Facility, University of Texas Southwestern Medical Center, 5323 Harry Hine Blvd., Dallas, TX, 75390, USA.
Anne Bergstrom LucasAgilent Technologies, Inc., 5301 Stevens Creek Blvd., Santa Clara, CA, 95051, USA.
Jennifer S LoCocoIllumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA.
Todd A RichmondMarket & Application Development Bioinformatics, Roche Sequencing Solutions Inc., 4300 Hacienda Dr., Pleasanton, CA, 94588, USA.ORCID 0000-0003-1508-6540
Elizabeth TsengPacBio, San Francisco, USA.
Rebecca KuskoCellino Bio, 750 Main Street, Cambridge, MA, 02143, USA.ORCID 0000-0001-6730-5990
Scott HappeAgilent Technologies, Inc., 1834 State Hwy 71 West, Cedar Creek, TX, 78612, USA.
Timothy R MercerAustralian Institute for Bioengineering and Nanotechnology, The University of Queensland, St Lucia, QLD, Australia.
Carlos Pabón-PeñaAgilent Technologies, Inc., 5301 Stevens Creek Blvd., Santa Clara, CA, 95051, USA.
Michael SalmansIllumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA.
Hagen U TilgnerBrain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA.
Wenzhong XiaoStanford Genome Technology Center, Stanford University, Palo Alto, CA, 94304, USA.
Donald J JohannWinthrop P Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, 4301W Markham St., Little Rock, AR, 72205, USA.
Wendell JonesQ squared Solutions Genomics, 2400 Elis Road, Durham, NC, 27703, USA.ORCID 0000-0002-9676-5387
Weida TongDivision of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.ORCID 0000-0003-3488-6148
Christopher E MasonDepartment of Physiology and Biophysics, Weill Cornell Medicine, Cornell University, New York, NY, 10065, USA. chm2042@med.cornell.edu.ORCID 0000-0002-1850-1642
David P KreilBioinformatics Research, Institute of Molecular Biotechnology, Boku University Vienna, Vienna, Austria. David.Kreil@boku.ac.at.
Joshua XuDivision of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA. Joshua.Xu@fda.hhs.gov.ORCID 0000-0001-5313-5847

Funding

Multiome measurements connecting transcription start sites at single-nucleotide resolution, DNA methylation and open chromatin status to splicing outcome across single cells in health and diseaseR35GM152101 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI HAGEN ULRICH TILGNER · 2024 to 2026
$1.7M
NIGMS NIH HHS R35 GM152101
6 · The paper itself

Abstract

Next-generation sequencing (NGS) has revolutionized genomic research by enabling high-throughput, cost-effective genome and transcriptome sequencing accelerating personalized medicine for complex diseases, including cancer. Whole genome/transcriptome sequencing (WGS/WTS) provides comprehensive insights, while targeted sequencing is more cost-effective and sensitive. In comparison to short-read sequencing, which still dominates the field due to high speed and cost-effectiveness, long-read sequencing can overcome alignment limitations and better discriminate similar sequences from alternative transcripts or repetitive regions. Hybrid sequencing combines the best strengths of different technologies for a more comprehensive view of genomic/transcriptomic variations. Understanding each technology's strengths and limitations is critical for translating cutting-edge technologies into clinical applications. In this study, we sequenced DNA and RNA libraries of reference samples using various targeted DNA and RNA panels and the whole transcriptome on both short-read and long-read platforms. This study design enables a comprehensive analysis of sequencing technologies, targeting protocols, and library preparation methods. Our expanded profiling landscape establishes a reference point for assessing current sequencing technologies, facilitating informed decision-making in genomic research and precision medicine.

Indexed as

High-Throughput Nucleotide SequencingHumansPrecision MedicineRNA-SeqSequence Analysis, DNASequence Analysis, RNATranscriptome

Identifiers

PMID39152166
PMCPMC11329654

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.