Results 261 to 270 of about 264,764 (308)

Shapley Additive Explanation for Local Class Differentiation: Local Explainability for Class Differentiation in Classification Models

open access: yesAdvanced Intelligent Systems, EarlyView.
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

Dissecting Pirtobrutinib Resistance in Mantle Cell Lymphoma Through Single‐Cell Multi‐Omics

open access: yesAmerican Journal of Hematology, EarlyView.
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

Post CAR‐T Measurable Residual Disease Monitoring in Mantle Cell Lymphoma Enables Early Detection of Disease Relapse

open access: yesAmerican Journal of Hematology, EarlyView.
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

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

open access: yesAnimal Models and Experimental Medicine, EarlyView.
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

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