#28 · Genomics
ML models infer tumor features from cfDNA fragmentomics and single-cell data
The dominant thread is inferring cell or tumor properties from indirect, sample-level, or noisy measurements using machine learning. TuFEst applies ML to genome-wide cfDNA fragmentomics for early breast cancer detection, molecular subtyping and lymph node assessment. The preprint on per-base quality scores in cfDNA WGS extends this fragmentomic framing: the scores carry fragmentomic signal, and a leave-one-batch-out classifier reaches pooled AUC 0.81 for cancer. Other items address single-cell data under weaker or constrained supervision: scMILD learns condition-associated cells from sample-level labels, scEvolver accumulates cell-type prototypes without revisiting historical data, and NIFty handles missing data in single-cell proteomics while avoiding double dipping. What is new is the input: per-base quality scores from cfDNA WGS.
Published papers
scMILD: Single-cell multiple instance learning for sample classification and associated subpopulation discovery.
scMILD is a weakly supervised multiple instance learning framework that identifies condition-associated cells from sample-level labels in single-cell data,…
Fragmentomic liquid biopsy enables early breast cancer detection, molecular subtyping and lymph node assessment.
TuFEst, an ML model on genome-wide cfDNA fragmentomics, detects early breast cancer, subtypes tumors and predicts lymph node status.
Preprints
PROTOTYPE-BASED CONTINUAL LEARNING FOR SINGLE-CELL ANNOTATION
scEvolver is a continual learning framework for single-cell annotation that accumulates cell-type prototypes without revisiting historical data, enabling…
Classification with Missing Data - A NIFty Pipeline for Single-Cell Proteomics
NIFty is a top-scoring pairs feature selection and classification pipeline for single-cell proteomics that handles missing data, avoids double dipping, and…
Exploring per-base quality scores as a surrogate marker of cell-free DNA fragmentome
Per-base quality scores in cfDNA WGS carry fragmentomic signal; a leave-one-batch-out classifier reaches pooled AUC 0.81 for cancer.
Topic history
| Date | Rank |
|---|---|
| #28 | |
| #20 | |
| #11 | |
| #1 | |
| #20 | |
| #7 | |
| #2 | |
| #3 | |
| #9 | |
| #3 | |
| #7 | |
| #7 | |
| #37 | |
| #25 | |
| #37 | |
| #39 | |
| #10 | |
| #31 | |
| #24 | |
| #35 | |
| #38 | |
| #35 |