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

Massive parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity

Chase C. Suiter, Takaya Moriyama, Kenneth A. Matreyek, Wentao Yang, Emma Rose Scaletti, Rina Nishii, Wenjian Yang, Keito Hoshitsuki, Minu Singh, Amita Trehan, Chris Parish, Colton J. Smith, Deepa Bhojwani, Liz Y. P. Yuen, Chi Kong Li, , Jun J.J. Yang

The paper identifies 1,103 deleterious NUDT15 variants using functional assays, improving pharmacogenetics-guided thiopurine treatment by accurately predicting toxicity risk alleles.

bioRxiv · Aug 20, 2019 · PreprintGenomics

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