Category: 2025

Interpreting the functional impact of genetic variants: The need for context qualifiers I

Martinelli S, Cavé H, De Luca A, DiStefano M, Karchin R, Lugones AC, O’Donnell-Luria A, Ritter DI, Tamborero D, Tolstorukov MY, Vidal Campregher P, Tartaglia M, Sonkin D. Interpreting the functional impact of genetic variants: The need for context qualifiers. The American Journal of Human Genetics. 2025 Dec 1. doi: 10.1016/j.ajhg.2025.11.007. Epub ahead of print.

Read on
Combination of pembrolizumab and radiotherapy induces systemic antitumor immune responses in immunologically cold non-small cell lung cancer C

Huang J, Theelen WSME, Belcaid Z, Najjar M, van der Geest D, Singh D, Cherry C, Balan A, White JR, Wehr J, Karchin R, Niknafs N, van den Heuvel MM, Velculescu VE, Smith KN, Baas P, Anagnostou V. Combination of pembrolizumab and radiotherapy induces systemic antitumor immune responses in immunologically cold non-small cell lung cancer. …

Read on
Spatial Proteomics and Transcriptomics Reveal Early Immune Cell Organization in Pancreatic Intraepithelial Neoplasia S

Lyman MR, Mitchell JT, Raghavan S, Kagohara LT, Huff AL, Haldar SD, Shin SM, Guinn S, Barrett B, Longway G, Hernandez A, Coyne EM, Yuan X, Andaloori L, Lai J, Liu YZ, Karchin R, Gupta A, Kiemen AL, Forjaz A, Wirtz D, Wu PH, Deshpande A, Lee JW, Armstrong TD, Azad NS, Zimmerman JW, Wood …

Read on
Informatics at the Frontier of Cancer Research I

Noller K, Botsis T, Camara PG, Ciotti L, Cooper LA, Goecks J, Griffith M, Haas BJ, Ideker T, Karchin R, Kontos D, Lai J, Marcus D, Meyer CA, Naegle K, Pati S, Peters B, Pratt D, Raphael BJ, Reich M, Savova GK, Wright C, Fertig EJ, Bakas S. Informatics at the Frontier of Cancer Research. …

Read on
Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer P

Ng JK, Chen Y, Akinwe TM, Heins HB, Mehinovic E, Chang Y, Gutmann DH, Gurnett CA, Payne ZL, Manuel JG, Karchin R, Turner TN. Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer. Cell Genom. 2025 Mar 4:100807. doi: 10.1016/j.xgen.2025.100807. Epub ahead of print. PMID: 40073865.

Read on