Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.329
Abstract: Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA… read more here.
Keywords: exome sequencing; based whole; microphthalmia anophthalmia; whole exome ... See more keywords
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2018.02.011
Abstract: OBJECTIVES Gangliosidosis is an inherited metabolic disorder causing neurodegeneration and motor regression. Preventive diagnosis is the first choice for the affected families due to lack of straightforward therapy. Genetic studies could confirm the diagnosis and… read more here.
Keywords: diagnosis; hexb; analysis; genotype ... See more keywords
Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.
Sign Up to like & getrecommendations! Published in 2019 at "Gynecologic oncology"
DOI: 10.1016/j.ygyno.2018.12.027
Abstract: OBJECTIVE Genetic testing identifies cancer patients who may benefit from targeted treatment and allows for enhanced cancer screening and risk-reduction in their at-risk relatives. Traditional models of genetic counseling (GC) cannot meet the increasing demand… read more here.
Keywords: genetic testing; ovarian cancer; test; cancer ... See more keywords
Reconfigurable Touch Panel Based on a Conductive Thixotropic Supramolecular Hydrogel.
Sign Up to like & getrecommendations! Published in 2023 at "ACS applied materials & interfaces"
DOI: 10.1021/acsami.2c18471
Abstract: Touch panels based on ionic conductive hydrogels perform excellent flexibility and biocompatibility, becoming promising candidates for the next-generation human-machine interface. However, these ionic hydrogels are usually composed of cross-linked polymeric networks that are difficult to… read more here.
Keywords: touch panel; hydrogel; based conductive; reconfigurable touch ... See more keywords
Application of Panel-Based Tests for Inherited Risk of Cancer.
Sign Up to like & getrecommendations! Published in 2017 at "Annual review of genomics and human genetics"
DOI: 10.1146/annurev-genom-091416-035305
Abstract: Next-generation or massively parallel sequencing has transformed the landscape of genetic testing for cancer susceptibility. Panel-based genetic tests evaluate multiple genes simultaneously and rapidly. Because these tests are frequently offered in clinical settings, understanding their… read more here.
Keywords: inherited risk; based tests; cancer; panel ... See more keywords
Tumor mutational burden quantification from targeted gene panels: major advancements and challenges
Sign Up to like & getrecommendations! Published in 2019 at "Journal for Immunotherapy of Cancer"
DOI: 10.1186/s40425-019-0647-4
Abstract: Tumor mutational burden (TMB), the total number of somatic coding mutations in a tumor, is emerging as a promising biomarker for immunotherapy response in cancer patients. TMB can be quantitated by a number of NGS-based… read more here.
Keywords: quantification; based tmb; panel based; gene panels ... See more keywords
A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00007
Abstract: We developed a panel-based NGS pipeline for comprehensive analysis of 340 genes involved in absorption, distribution, metabolism and excretion (ADME) of drugs, other xenobiotics, and endogenous substances. The 340 genes comprised phase I and II… read more here.
Keywords: new panel; 340 genes; liver; expression ... See more keywords