학술논문

Sensitive detection of tumor mutations from blood and its application to immunotherapy prognosis
Document Type
article
Source
Nature Communications. 12(1)
Subject
Genetic Testing
Cancer
Human Genome
Genetics
Detection
screening and diagnosis
4.2 Evaluation of markers and technologies
4.1 Discovery and preclinical testing of markers and technologies
Good Health and Well Being
Adult
Antibodies
Monoclonal
Humanized
Biomarkers
Tumor
Biopsy
Circulating Tumor DNA
Computer Simulation
DNA Mutational Analysis
Datasets as Topic
Drug Resistance
Neoplasm
Female
Humans
Immune Checkpoint Inhibitors
Male
Middle Aged
Mutation
Neoplasms
Polymorphism
Single Nucleotide
Prognosis
Programmed Cell Death 1 Receptor
Progression-Free Survival
Sensitivity and Specificity
Exome Sequencing
Language
Abstract
Cell-free DNA (cfDNA) is attractive for many applications, including detecting cancer, identifying the tissue of origin, and monitoring. A fundamental task underlying these applications is SNV calling from cfDNA, which is hindered by the very low tumor content. Thus sensitive and accurate detection of low-frequency mutations (