Results 191 to 200 of about 124,431 (304)

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source

Molecular Tumor Boards in Malignant Melanoma: Uncovering Challenges and Opportunities in a Bicenter Retrospective Analysis in Germany

International Journal of Cancer, EarlyView.
Molecular tumor boards (MTB), interdisciplinary teams that use tumor genomic data to guide personalized treatment decisions, have emerged as a promising strategy in melanoma care, although their real‐world clinical impact remains uncertain. This retrospective study evaluated advanced melanoma patients to assess molecularly guided treatment ...
Glenn Geidel, Theresa Lowinus, Patrick Metzger, Rebecca Czurda, Vincent Schipperges, Ulrike Paul, Alessandra Rünger, Julian Kött, Isabel Heidrich, Saskia Lehr, Julia Kühn, Heiko Becker, Cornelius Miething, Martin Werner, Silke Laßmann, Justus Duyster, Tilman Brummer, Ronald Simon, Winfried Alsdorf, Maximilian Christopeit, Carsten Bokemeyer, Kilian Eyerich, Stefan W. Schneider, David Rafei, Melanie Börries, Frank Meiss, Christoffer Gebhardt   +26 more
wiley   +1 more source

bacNeo: A Computational Toolkit for Identifying Bacteria‐Derived Neoantigens in Human Cancers

iMetaMed, EarlyView.
We present bacterial neoantigen (bacNeo), a multi‐omics‐based computational software to classify bacterial components (BACC), type bacteria‐bound HLA alleles (BACH), and prioritize bacterial peptides as neoantigens (BACP). Bacterial neoantigen potential is quantified by score for peptide antigenicity recognition & kinetics (SPARK), enabling ...
Yunzhe Wang, Li Yuan, Katie W. Gu, Xiangdong Cheng, Bo Wen, Zhao Zhang   +5 more
wiley   +1 more source

Promises and Pitfalls of Whole Exome Sequencing in Therapy-Resistant Chronic Thrombocytopenia in Childhood: A Case Report. [PDF]

J Pers Med
Györke E, Benyó G, Árvai KB, Bödör C, Kereskai L, Ábrahám H, Réger B, Egyed B, Ottóffy G.   +8 more
europepmc   +1 more source

Progress of metabolomics‐centric multi‐omics research in medicine

iMetaOmics, EarlyView.
The graphical abstract illustrates a holistic roadmap for metabolomics‐centric multi‐omics integration in medical research. The upper panel depicts the technological transition from traditional bulk analysis to high‐resolution single‐cell and spatial methodologies, specifically addressing inherent challenges such as molecular complexity and dynamic ...
Ziyi Wang, Shiwen Deng, Xiaoxu Wang, Xiao Chang, Na Guo, Peng Chen, Hongjun Yang   +6 more
wiley   +1 more source

GermVarX: A Robust Workflow for Joint Germline Variant Exploration in whole-exome sequencing cohorts. [PDF]

PLoS One
Nguyen TTP, Nguyen DD, Mai TV, Nguyen DK, Nguyen TD, Truong NTM, Ha HH, Tran TTH.   +7 more
europepmc   +1 more source

Patient‐derived organoid‐immune co‐cultures integrated with multi‐omics reveal immunotherapy resistance mechanisms in urothelial carcinoma

iMeta, EarlyView.
Immunotherapy resistance presents a formidable challenge in tumor biology. While fibroblast growth factor receptor 3 (FGFR3) serves as a pivotal oncogenic driver in a multitude of cancers, the exploration of its role in immune checkpoint inhibitor (ICI) resistance remains scarce, thus impeding a deeper understanding of the tumor immune microenvironment
Shan Jiang, Yuxuan Song, Yun Peng, Ran Yan, Yunze Niu, Baoqiang Chen, Jiaxing Lin, Jilin Wu, Shixiang Wang, Yiqing Du, Caipeng Qin, Yihan Lin, Tao Xu   +12 more
wiley   +1 more source

A convolutional attention model classifies copy number variants from whole exome sequencing. [PDF]

Sci Rep
Ouhmouk M, Abik M.
europepmc   +1 more source

Computing mutational signature exposure in human cancer: bridging the gap from whole exome to whole genome sequencing

LAUREA MAGISTRALEQuesto progetto mira a combinare le nozioni fondamentali dell'assegnazione genomica delle signature mutazionali con i modelli di Machine Learning (ML) per creare delle regole che permettano di colmare la differenza tra scenario whole ...
PAGANI, SUSANNA
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