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cfDNA and other blood tests

I. cfDNA

Multianalyte & Multiomics

  • 2024 Cell Reports Medicine - Multi-modal cell-free DNA genomic and fragmentomic patterns enhance cancer survival and recurrence analysis

  • cfDNA+cfDNAmet+cfRNA-S+cfRNA-L - 2023 Cell Reports Medicine - Cell-free multi-omics analysis reveals potential biomarkers in gastrointestinal cancer patients’ blood

  • cfDNA+cfDNAmet - 2023 Cancer Discovery - Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA

  • cf-WGS+cf-WGBS - 2022 Cancer Cell - Evaluation of cell-free DNA approaches for multi- cancer early detection

  • CancerSEEK+PET-CT: 2020 Science - Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention

  • ~60 cfDNA + 8 proteins (CancerSEEK): 2018 Science - Detection and localization of surgically resectable cancers with a multi-analyte blood test

cfDNA/mbDNA

  • 2024 Science Translational Medicine - Machine learning to detect the SINEs of cancer
  • 2023 GB - The landscape of cell-free mitochondrial DNA in liquid biopsy for cancer detection
  • 2023 Nature Genetics - Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer
  • 2023 STM - Genome-wide analysis of aberrant position and sequence of plasma DNA fragment ends in patients with cancer
  • ✅ [end-motif ] 2023 PNAS - Fragmentation landscape of cell-free DNA revealed by deconvolutional analysis of end motifs
  • 2022 Cancer Discovery - Nucleosome patterns in circulating tumor DNA reveal transcriptional regulation of advanced prostate cancer phenotypes
  • cfDNA SNV+met: 2022 Science Trans. Med. - Simultaneous analysis of mutations and methylations in circulating cell-free DNA for hepatocellular carcinoma detection
  • Captured ctDNA SNV+CNV: 2020 Nature - Integrating genomic features for noninvasive early lung cancer detection
  • Microbiome: 2020 Nature - Microbiome analyses of blood and tissues suggest cancer diagnostic approach
  • Fragmentome (DELFI): 2022 Cancer Discovery - Detecting liver cancer using cell-free DNA fragmentomes
  • Fragmentome (DELFI): 2021 Nature Commn. - Detection and characterization of lung cancer using cell-free DNA fragmentomes
  • Fragmentome (DELFI): 2019 Nature - Genome-wide cell-free DNA fragmentation in patients with cancer

cfDNA Methylation

  • ✅ [Grail, cfDNA vs. cfDNAmet] - 2022 Cancer Cell - Evaluation of cell-free DNA approaches for multicancer early detection
  • [Grail, Targeted BS] 2022 ESMO congress - PATHFINDER: A Prospective Study of a Multi-Cancer Early Detection Blood Test
  • [Grail, Targeted BS] 2021 Annals of Oncology - Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set
  • [Grail, Targeted BS] 2020 Annals of Oncology - Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA
  • ✨ [meDIP] 2018 Nature - Sensitive tumour detection and classification using plasma cell-free DNA methylomes

cfDNAmet and histone modification

  • 2023 Nature Medicine - Liquid biopsy epigenomic profiling for cancer subtyping
  • 2021 Nature Biotech. - ChIP-seq of plasma cell-free nucleosomes identifies gene expression programs of the cells of origin

II. Others

cfRNA

see cfRNA

TCR

  • 2020 - Science Transl. Med. - De novo prediction of cancer-associated T cell receptors for noninvasive cancer detection

Proteome

  • ✅ [Plasma proteome] 2023 Nature - Organ aging signatures in the plasma proteome track health and disease
  • [Plasma proteome] 2022 Nature Medicine - Noninvasive proteomic biomarkers for alcohol-related liver disease
  • ✅ [MS-EVP] Exosomic proteins: 2020 Cell - Extracellular Vesicle and Particle Biomarkers Define Multiple Human Cancers
  • [APPA] 2020 Sci Adv - Proteomic analysis of circulating extracellular vesicles identifies potential markers of breast cancer progression, recurrence, and response

Metabolome

  • 2024 Nature Commn. - Metabolomic machine learning predictor for diagnosis and prognosis of gastric cancer