A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas [PDF]
Sergey I. Nikolaev+12 more
openalex +1 more source
Pharmacogenomics in the UK National Health Service: Progress towards implementation
Over the past decade there has been considerable and growing enthusiasm about the promise of using genomics to inform healthcare. In particular, using genetic data to inform prescribing practice has emerged as a compelling policy priority for health systems around the world, not least in the NHS.
John H. McDermott+3 more
wiley +1 more source
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward. [PDF]
Jiang M+5 more
europepmc +1 more source
Pan‐cancer analysis shapes the understanding of cancer biology and medicine
Abstract Advances in multi‐omics datasets and analytical methods have revolutionized cancer research, offering a comprehensive, pan‐cancer perspective. Pan‐cancer studies identify shared mechanisms and unique traits across different cancer types, which are reshaping diagnostic and treatment strategies.
Xiaoping Cen+21 more
wiley +1 more source
Molecular Characterization of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma. [PDF]
Klein JC, Wilky BA, Ford HL.
europepmc +1 more source
Abstract Background Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of aggressive non‐Hodgkin's lymphoma with distinct clinical and molecular heterogeneity. DLBCL that arises in extranodal organs is particularly linked to poor prognosis. This study aimed to determine the clinical and molecular characteristics of extranodal involvement (
Si‐Yuan Chen+46 more
wiley +1 more source
Costs and Benefits of Whole-Exome, Whole-Transcriptome Sequencing in Patients With Advanced Non-Small Cell Lung Cancer. [PDF]
Ortendahl JD+6 more
europepmc +1 more source
From a Single Whole Exome Read to Notions of Clinical Screening: Primary Ciliary Dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula [PDF]
Muslim M. Alsaadi+9 more
openalex +1 more source
Abstract Background Intrahepatic cholangiocarcinoma (ICC) is a challenging cancer with an increasing incidence. The Phase III TOPAZ‐1/KEYNOTE‐966 study demonstrated chemo‐immunotherapy (CIT) as a significant advancement, potentially replacing traditional chemotherapy for advanced biliary tract cancer.
Jinghan Zhu+12 more
wiley +1 more source
AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data. [PDF]
Watson CM+11 more
europepmc +1 more source