Results 231 to 240 of about 183,311 (355)

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

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

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

Treading the Path with Caution: Interpreting the Whole Exome Sequencing Data for Mendelian Disorders [PDF]

Madhumita Roy Chowdhury, Neerja Gupta
openalex   +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

Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease. [PDF]

World J Hepatol
Yodoshi T.
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

A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing. [PDF]

Mol Genet Genomic Med
Kong F, Yin Z, Zhou H, Liu Z, Xie W.
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

Whole exome sequencing identifies somatically mutated genes in bladder cancer: A pilot study from Bangladesh. [PDF]

Biochem Biophys Rep
Ahmed HU, Hosen MR, Mostofa MA, Hossain MA, Faruk MO, Shekhar HU, Hasan AM, Hosen MI.   +7 more
europepmc   +1 more source