DREAMS: deep read-level error model for sequencing data applied to low-frequency variant calling and circulating tumor DNA detection, Genome Biology

Circulating tumor DNA detection using next-generation sequencing (NGS) data of plasma DNA is promising for cancer identification and characterization. However, the tumor signal in the blood is often low and difficult to distinguish from errors. We present DREAMS (Deep Read-level Modelling of Sequencing-errors) for estimating error rates of individual read positions. Using DREAMS, we develop statistical methods for variant calling (DREAMS-vc) and cancer detection (DREAMS-cc). For evaluation, we generate deep targeted NGS data of matching tumor and plasma DNA from 85 colorectal cancer patients. The DREAMS approach performs better than state-of-the-art methods for variant calling and cancer detection.

Machine learning guided signal enrichment for ultrasensitive

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White blood cell and cell-free DNA analyses for detection of

NGS-Based Tumor-Informed Analysis of Circulating Tumor DNA

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The changing face of circulating tumor DNA (ctDNA) profiling

The changing face of circulating tumor DNA (ctDNA) profiling

DREAMS: deep read-level error model for sequencing data applied to

Types of errors. A screenshot from the IGV browser [21] showing