Language model enables end-to-end accurate detection of cancer from cell-free DNA.
Brief Bioinform
; 25(2)2024 Jan 22.
Article
en En
| MEDLINE
| ID: mdl-38385880
ABSTRACT
We present a language model Affordable Cancer Interception and Diagnostics (ACID) that can achieve high classification performance in the diagnosis of cancer exclusively from using raw cfDNA sequencing reads. We formulate ACID as an autoregressive language model. ACID is pretrained with language sentences that are obtained from concatenation of raw sequencing reads and diagnostic labels. We benchmark ACID against three methods. On testing set subjected to whole-genome sequencing, ACID significantly outperforms the best benchmarked method in diagnosis of cancer [Area Under the Receiver Operating Curve (AUROC), 0.924 versus 0.853; P < 0.001] and detection of hepatocellular carcinoma (AUROC, 0.981 versus 0.917; P < 0.001). ACID can achieve high accuracy with just 10 000 reads per sample. Meanwhile, ACID achieves the best performance on testing sets that were subjected to bisulfite sequencing compared with benchmarked methods. In summary, we present an affordable, simple yet efficient end-to-end paradigm for cancer detection using raw cfDNA sequencing reads.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Carcinoma Hepatocelular
/
Ácidos Nucleicos Libres de Células
/
Neoplasias Hepáticas
Límite:
Humans
Idioma:
En
Revista:
Brief Bioinform
Asunto de la revista:
BIOLOGIA
/
INFORMATICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China