Evidence map›Paper›PMID 40217113›Full record

ArticleNature methods2025

Error-corrected flow-based sequencing at whole-genome scale and its application to circulating cell-free DNA profiling.

Alexandre Pellan Cheng, Adam J Widman, Anushri Arora, Itai Rusinek, Aaron Sossin, Srinivas Rajagopalan, Nicholas Midler, William F Hooper, Rebecca M Murray, Daniel Halmos and 37 more

Abstract read
In one paragraph

Article in Nature methods, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

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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

47 authors.

Alexandre Pellan Cheng *New York Genome Center, New York, NY, USA. alexandre.cheng@etsmtl.ca.ORCID http://orcid.org/0000-0002-3667-0992
Adam J Widman *New York Genome Center, New York, NY, USA.
Anushri Arora *New York Genome Center, New York, NY, USA.
Itai RusinekUltima Genomics, Fremont, CA, USA.ORCID http://orcid.org/0000-0001-5027-5764
Aaron SossinNew York Genome Center, New York, NY, USA.
Srinivas RajagopalanNew York Genome Center, New York, NY, USA.
Nicholas MidlerNew York Genome Center, New York, NY, USA.
William F HooperNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-0078-8921
Rebecca M MurrayNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-5476-1935
Daniel HalmosNew York Genome Center, New York, NY, USA.
Theophile LanganayNew York Genome Center, New York, NY, USA.
Hoyin ChuSandra and Edward Meyer Cancer Center, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.
Giorgio InghiramiSandra and Edward Meyer Cancer Center, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.ORCID http://orcid.org/0000-0001-5566-0864
Catherine PotenskiNew York Genome Center, New York, NY, USA.
Soren GermerNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-6038-8508
Melissa MartonNew York Genome Center, New York, NY, USA.
Dina ManaaNew York Genome Center, New York, NY, USA.
Adrienne HellandNew York Genome Center, New York, NY, USA.
Rob FurateroNew York Genome Center, New York, NY, USA.
Jaime McClintockNew York Genome Center, New York, NY, USA.
Lara WinterkornNew York Genome Center, New York, NY, USA.
Zoe SteinsnyderNew York Genome Center, New York, NY, USA.
Yohyoh WangNew York Genome Center, New York, NY, USA.
Asrar I AlimohamedMass General Cancer Center, Massachusetts General Hospital, Boston, MA, USA.
Murtaza S MalbariSandra and Edward Meyer Cancer Center, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.
Ashish SaxenaSandra and Edward Meyer Cancer Center, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.
Margaret K CallahanMemorial Sloan Kettering Cancer Center, New York, NY, USA.
Dennie T FrederickMass General Cancer Center, Massachusetts General Hospital, Boston, MA, USA.
Lavinia SpainCancer Dynamics Laboratory, The Francis Crick Institute, London, UK.
Michael SigourosCaryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Jyothi ManoharCaryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Abigail KingCaryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0009-0008-5358-8414
David WilkesCaryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-2422-1145
John OtilanoCaryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
Olivier ElementoCaryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-8061-9617
Juan Miguel MosqueraCaryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0003-4666-6476
Ariel JaimovichUltima Genomics, Fremont, CA, USA.
Doron LipsonUltima Genomics, Fremont, CA, USA.
Samra TurajlicCancer Dynamics Laboratory, The Francis Crick Institute, London, UK.
Michael C ZodyNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-6594-7199
Nasser K AltorkiSandra and Edward Meyer Cancer Center, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.ORCID http://orcid.org/0000-0001-9754-9945
Jedd D WolchokSandra and Edward Meyer Cancer Center, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.
Michael A PostowSandra and Edward Meyer Cancer Center, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.
Nicolas RobineNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-5698-8183
Bishoy M FaltasSandra and Edward Meyer Cancer Center, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.
Genevieve BolandMass General Cancer Center, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7522-6173
Dan A LandauNew York Genome Center, New York, NY, USA. dlandau@nygenome.org.ORCID http://orcid.org/0000-0003-2346-9541

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Tri-Institutional PhD Program in Computational Biology & MedicineT32GM132083 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI Doron Betel, Iman Hajirasouliha · 2020 to 2026
$3.6M
Genome-wide mutational integration for ultra-sensitive plasma tumor burden monitoring in immunotherapyR01CA266619 · NCI · WEILL MEDICAL COLL OF CORNELL UNIV · PI Dan Landau, Nicolas Robine · 2022 to 2026
$3.2M
Advanced machine learning to empower ultra-sensitive liquid biopsy in melanoma and non-small cell lung cancerK08CA263301 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI Adam Widman · 2023 to 2026
$1.2M
Deciphering Clonal Evolution in Hereditary Renal Cell CarcinomasU01CA247439 · NCI · FRANCIS CRICK INSTITUTE, LTD · PI TURAJLIC, SAMRA · 2020 to 2024
$1.1M
Cancer Research UK (CRUK) A29911, FC10988NCI NIH HHS K08 CA263301NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA266619NCI NIH HHS U01 CA247439NIGMS NIH HHS T32 GM132083U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) P30 CA08748U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) R01-CA266619-01Wellcome TrustWellcome Trust (Wellcome) FC10988
6 · The paper itself

Abstract

Differentiating sequencing errors from true variants is a central genomics challenge, calling for error suppression strategies that balance costs and sensitivity. For example, circulating cell-free DNA (ccfDNA) sequencing for cancer monitoring is limited by sparsity of circulating tumor DNA, abundance of genomic material in samples and preanalytical error rates. Whole-genome sequencing (WGS) can overcome the low abundance of ccfDNA by integrating signals across the mutation landscape, but higher costs limit its wide adoption. Here, we applied deep (~120×) lower-cost WGS (Ultima Genomics) for tumor-informed circulating tumor DNA detection within the part-per-million range. We further leveraged lower-cost sequencing by developing duplex error-corrected WGS of ccfDNA, achieving 7.7 × 10

Indexed as

Cell-Free Nucleic AcidsCirculating Tumor DNAHigh-Throughput Nucleotide SequencingWhole Genome SequencingGenomicsHumansMelanomaMutationSequence Analysis, DNACell-Free Nucleic AcidsCirculating Tumor DNA

Identifiers

PMID40217113
PMCPMC12077166

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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.