Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Hematology"
DOI: 10.1007/s12185-019-02716-9
Abstract: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the… read more here.
Keywords: targeted next; anemia; next generation; generation sequencing ... See more keywords
Phylogenomics of Gesneriaceae using targeted capture of nuclear genes.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular phylogenetics and evolution"
DOI: 10.1016/j.ympev.2021.107068
Abstract: Gesneriaceae (ca. 3400 species) is a pantropical plant family with a wide range of growth form and floral morphology that are associated with repeated adaptations to different environments and pollinators. Although Gesneriaceae systematics has been… read more here.
Keywords: gesneriaceae using; phylogenomics gesneriaceae; family; capture ... See more keywords
Coccidioidomycosis Detection Using Targeted Plasma and Urine Metabolic Profiling.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of proteome research"
DOI: 10.1021/acs.jproteome.9b00100
Abstract: Coccidioidomycosis, also known as Valley fever (VF), is a potentially lethal fungal infection that results in more than 200 deaths per year in the United States. Despite the important role of metabolic processes in the… read more here.
Keywords: metabolic profiling; using targeted; detection using; plasma urine ... See more keywords
Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2021.2002915
Abstract: BACKGROUND Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology… read more here.
Keywords: prenatal diagnosis; next generation; generation sequencing; using targeted ... See more keywords
Clinical and analytical validation for HRD status using targeted panel sequencing.
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2024.42.16_suppl.e17501
Abstract: e17501 Background: In cancer therapy, understanding homologous recombination deficiency (HRD) is paramount, particularly due to its positive association with sensitivity to PARP inhibitor (PARPi) therapy. We propose using a targeted sequencing approach as a cost-effective… read more here.
Keywords: targeted panel; hrd; using targeted; hrd status ... See more keywords
Assessment of concordance between fresh-frozen and formalin-fixed paraffin embedded tumor DNA methylation using a targeted sequencing approach
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.18296
Abstract: DNA methylation is altered in many types of disease, including metastatic colorectal cancer. However, the methylome has not yet been fully described in archival formalin-fixed paraffin embedded (FFPE) samples in the context of matched fresh-frozen… read more here.
Keywords: using targeted; methylation; formalin; dna methylation ... See more keywords
Short Report: Using Targeted Urine Metabolomics to Distinguish Between Manganese Exposed and Unexposed Workers in a Small Occupational Cohort
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Public Health"
DOI: 10.3389/fpubh.2021.666787
Abstract: Objectives: Despite the widespread use of manganese (Mn) in industrial settings and its association with adverse neurological outcomes, a validated and reliable biomarker for Mn exposure is still elusive. Here, we utilize targeted metabolomics to… read more here.
Keywords: exposed unexposed; short report; metabolism; unexposed workers ... See more keywords
Quantification of Histone H1 Subtypes Using Targeted Proteomics
Sign Up to like & getrecommendations! Published in 2024 at "Biomolecules"
DOI: 10.3390/biom14101221
Abstract: Histone H1 is involved in the regulation of chromatin structure. Human somatic cells express up to seven subtypes. The variability in the proportions of somatic H1s (H1 complement) is one evidence supporting their functional specificity.… read more here.
Keywords: quantification histone; quantification; histone subtypes; subtypes using ... See more keywords
Mutational Profiling Detection in FNAC Samples of Different Types of Thyroid Neoplasms Using Targeted NGS
Sign Up to like & getrecommendations! Published in 2025 at "Cancers"
DOI: 10.3390/cancers17152429
Abstract: Simple Summary This retrospective study analyzed 952 patients with thyroid neoplasms using targeted next-generation sequencing (NGS) of fine-needle aspiration cytology (FNAC) samples. The most frequent mutation was BRAFV600E (84.45%). High-risk mutations were associated with larger… read more here.
Keywords: mutational profiling; neoplasms using; fnac samples; thyroid neoplasms ... See more keywords
Baseline Data of the Fungal Phytobiome of Three Sorghum (Sorghum bicolor) Cultivars in South Africa using Targeted Environmental Sequencing
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Fungi"
DOI: 10.3390/jof7110978
Abstract: Plant-associated fungi, or the mycobiome, inhabit plant surfaces above ground, reside in plant tissues as endophytes, or are rhizosphere in the narrow zone of soil surrounding plant roots. Studies have characterized mycobiomes of various plant… read more here.
Keywords: ground; plant; baseline data; data fungal ... See more keywords