Results 221 to 230 of about 215,860 (303)

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

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience. [PDF]

Mol Genet Genomic Med
Lin HH, Tsai MM, Chen HA, Hsu RH, Lin YS, Lin YL, Hsu C, Chien YH, Hwu WL, Lee NC.   +9 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

Functional network analysis in hepatolithiasis: identifying novel therapeutic targets through whole-exome sequencing. [PDF]

PeerJ
Tang D, Gu X, Liu D, Yang J, Zhao L.
europepmc   +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

RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing. [PDF]

Genet Med Open
VanNoy GE, Schultz C, Gasser B, Gage J, Grzybowski J, Horton C, Holman M, Ichikawa S, Kudalkar E, Samons M, Zimmermann H, Richardson ME.   +11 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

Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes. [PDF]

Hum Genet
Plengvidhya N, Tangjarusritaratorn T, Teerawattanapong N, Narkdontri T, Innang S, Songlilitchuwong S, Suthon S, Tangjittipokin W.   +7 more
europepmc   +1 more source