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Bishoy Faltas: Error-corrected whole-genome flow-based sequencing for cell-free DNA profiling
Apr 14, 2025, 17:21

Bishoy Faltas: Error-corrected whole-genome flow-based sequencing for cell-free DNA profiling

Bishoy Faltas, Chief Research Officer at the Englander Institute for Precision Medicine and Associate Professor of Medicine and Cell and Developmental Biology at Weill Cornell Medicine, shared a post on X about a paper he co-authored with colleagues published in Nature Methods:

“ctDNA is a key piece of the puzzle in building an integrated precision oncology ecosystem at Weill Cornell Medicine.

Excited to share collaborative paper #2 this month. This time with the brilliant Alexandre Pellan Cheng, and Dan Landau!

Highlights:

Deep error-corrected WGS of cfDNA using the Ultima Genomics platform.

Tumor-uninformed, ultra-sensitive detection – huge implications for detecting minimal residual disease in Bladder Cancer without tumor sequencing.

Detection of mutational signatures caused by APOBEC3 mutagenic enzymes (SBS2 + SBS13) in cfDNA. These are dominant in bladder cancer and improve test performance.

Detection of chemotherapy-induced signature (SBS31) in cfDNA – even without tumor present, suggesting platinum mutagenesis in nonmalignant cells -> enabling monitoring of chemo-induced genotoxicity.

Beautiful full X-plainer here by Alexandre Pellan Cheng.

Weill Cornell Medicine press release here.

Stay tuned for our next collaborative paper coming soon: another piece of the puzzle…or maybe the key to bringing more pieces together?”

“Error-corrected flow-based sequencing at whole-genome scale and its application to circulating cell-free DNA profiling”

Authors: Alexandre Pellan Cheng, Adam Widman, Anushri Arora, Itai Rusinek, Aaron Sossin, Michael Postow, Nicolas Robine, Bishoy Faltas, Genevieve Boland, Dan Landau et al.

Bishoy Faltas: Error-corrected whole-genome flow-based sequencing for cell-free DNA profiling

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