The paper uses single-cell sequencing to uncover hidden genetic diversity in pediatric ALL that is not detected by bulk sequencing, identifying treatment-resistant clones and their associated mutations.

bioRxiv · Mar 19, 2025 · PreprintCancer Biology

Functional investigation of inherited noncoding genetic variation impacting the pharmacogenomics of childhood acute lymphoblastic leukemia treatment

Kashi Raj Bhattarai, Robert J. Mobley, Kelly R. Barnett, Daniel C. J. Ferguson, Baranda S. Hansen, Jonathan D. Diedrich, Brennan P. Bergeron, Satoshi Yoshimura, Wenjian Yang, Kristine R. Crews, Christopher S. Manring, Elias Joseph Jabbour, Elisabeth M. Paietta, Mark Robert Litzow, Steven Mitchell Kornblau, , Daniel Savic

The paper identifies noncoding genetic variants affecting chemotherapy response in childhood ALL by linking them to gene regulatory elements and showing functional impacts on drug sensitivity.

Nature Communications · May 1, 2024Peer-reviewedGenetic & Genomic Medicine

Epigenomic mapping in B-cell acute lymphoblastic leukemia identifies transcriptional regulators and noncoding variants promoting distinct chromatin architectures

Kelly R. Barnett, Robert J. Mobley, Jonathan D. Diedrich, Brennan P. Bergeron, Kashi Raj Bhattarai, Alexander C. Monovich, Shilpa Narina, Wenjian Yang, Kristine R. Crews, Christopher S. Manring, Elias Joseph Jabbour, Elisabeth M. Paietta, Mark Robert Litzow, Steven Mitchell Kornblau, Wendy Stock, , Daniel Savic

The paper maps chromatin accessibility in B-ALL subtypes using ATAC-seq, identifies TFs and genetic variants influencing chromatin architecture and gene regulation.

Cell Genomics · Nov 20, 2023Peer-reviewedGenomics

Effects of NT5C2 germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia

Chuang Jiang, Wenjian Yang, Takaya Moriyama, Chengcheng Liu, Colton J. Smith, Wentao Yang, Maoxiang Qian, Ziping Li, Morten Tulstrup, Kjeld Schmiegelow, Kristine R. Crews, Hui Zhang, Ching‐Hon Pui, William Edward Evans, Mary V. Relling, , Jun J.J. Yang

This study identifies NT5C2 germline variants affecting 6-MP metabolism in ALL patients, showing two independent variants influence TGN levels.

Clinical Pharmacology & Therapeutics · Oct 29, 2020Peer-reviewedGenetics

Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing

Kenneth A. Matreyek, Lea M. Starita, Jason J. Stephany, Beth Martin, Melissa A. Chiasson, Vanessa E. Gray, Martin Kircher, Arineh Khechaduri, Jennifer N. Dines, Ronald J. Hause, Smita Bhatia, William Edward Evans, Mary V. Relling, Wenjian Yang, Jay Shendure, Douglas M. Fowler

This paper introduces VAMP-seq, a method to assess the abundance of protein variants, and identifies pathogenic variants in PTEN and TPMT.

Nature Genetics · May 20, 2018Peer-reviewedGenetics