Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka+10 more
wiley +1 more source
Impact of NICE Guideline NG241 'Ovarian Cancer: identifying and managing familial and genetic risk' on a regional NHS family history and clinical genetics service. [PDF]
Roe A+5 more
europepmc +1 more source
Diverse clinical outcomes of eosinophilic patients with T‐cell receptor gene rearrangements: The emerging diagnostic importance of molecular genetics testing [PDF]
Joseph H. Butterfield
openalex +1 more source
Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu+15 more
wiley +1 more source
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice. [PDF]
Redman MG+3 more
europepmc +1 more source
Clinical genetics: Compassion, access, science, and advocacy [PDF]
Edward R.B. McCabe
openalex +1 more source
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley +1 more source
Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. [PDF]
Nagy P+7 more
europepmc +1 more source
Queensland Consumers' Awareness and Understanding of Clinical Genetics Services. [PDF]
Wallingford CK+13 more
europepmc +1 more source