An instance‐level, model‐agnostic explanation of class differentiation is introduced through SHAP‐LCD, linking probability shifts to feature‐wise Shapley contributions. The method operates on tabular and image data and is released in a fully reproducible implementation, offering a transparent way to examine, at each instance, why predictive models ...
Roxana M. Romero Luna +2 more
wiley +1 more source
Full-Length Transcriptome Profiling of the Complete Mitochondrial Genome of Sericothrips houjii (Thysanoptera: Thripidae: Sericothripinae) Featuring Extensive Gene Rearrangement and Duplicated Control Regions. [PDF]
Liu Q +5 more
europepmc +1 more source
Dissecting Pirtobrutinib Resistance in Mantle Cell Lymphoma Through Single‐Cell Multi‐Omics
ABSTRACT Pirtobrutinib (PBN), a non‐covalent BTK inhibitor, has been approved by the FDA for relapsed/refractory mantle cell lymphoma (MCL); however, resistance to PBN has been observed. To dissect the molecular dynamics driving PBN resistance, we performed integrative single‐cell multi‐omic profiling (scRNA‐seq, scATAC‐seq, and scDNA‐seq) on ...
Fangfang Yan +10 more
wiley +1 more source
EBV-positive inflammatory follicular dendritic cell sarcoma of the colon with clonal immunoglobulin gene rearrangement: A case report and literature review. [PDF]
Xu X, Li X, Deng Q, Yu K, Li J.
europepmc +1 more source
Assessment of Bone Marrow Involvement in B-Cell non-Hodgkin Lymphoma Using Immunoglobulin Gene Rearrangement Analysis with Next-Generation Sequencing. [PDF]
Jeon MJ +7 more
europepmc +1 more source
ABSTRACT CD19‐directed chimeric antigen receptor (CAR) T‐cell therapy has transformed outcomes for patients with relapsed or refractory (r/r) mantle cell lymphoma (MCL), yet more than 40% relapse within one year. Early identification of patients at risk for progression could inform post CAR‐T surveillance and consolidation strategies.
Snegha Ananth +12 more
wiley +1 more source
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
MAML2 gene rearrangement occurs in all Warthin-like mucoepidermoid carcinoma: A reappraisal in a series of 29 cases. [PDF]
Wang X, Liu L, He H, Li B.
europepmc +1 more source
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Molecular characterization of the A52 murine hepatocellular carcinoma cell line
Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman +5 more
wiley +1 more source

