Results 11 to 20 of about 169,956 (263)

Opportunities and achievements of using massive parallel sequencing in the diagnosis of neurodevelopmental diseases

Эпилепсия и пароксизмальные состояния, 2023
The contribution of genetic factors to development of neurological diseases has long been recognized, and the majority of the advances coupled to using molecular genetic technologies resulted in identifying genes associated with the pathology of ...
T. V. Kozhanova
doaj   +1 more source

SCHOOL: Software for Clinical Health in Oncology for Omics Laboratories

Journal of Pathology Informatics, 2022
Bioinformatics analysis is a key element in the development of in-house next-generation sequencing assays for tumor genetic profiling that can include both tumor DNA and RNA with comparisons to matched-normal DNA in select cases.
Chelsea K Raulerson, Erika C Villa, Jeremy A Mathews, Benjamin Wakeland, Yan Xu, Jeffrey Gagan, Brandi L Cantarel   +6 more
doaj   +1 more source

Tearing down the walls: FDA approves next generation sequencing (NGS) assays for actionable cancer genomic aberrations

Journal of Experimental & Clinical Cancer Research, 2018
The United States Food and Drug Administration (FDA) recently approved the clinical use of two comprehensive ‘mid-size’ Next Generation Sequencing (NGS) panels calling actionable genomic aberrations in cancer.
Matteo Allegretti, Alessandra Fabi, Simonetta Buglioni, Aline Martayan, Laura Conti, Edoardo Pescarmona, Gennaro Ciliberto, Patrizio Giacomini   +7 more
doaj   +1 more source

Analysis of Small RNAs of Barley Genotypes Associated with Resistance to Barley Yellow Dwarf Virus

Plants, 2020
Barley yellow dwarf virus (BYDV) causes an often-devastating disease of cereals that is most effectively controlled by using plant genotypes that are resistant or tolerant to the virus. New barley lines Vir8:3 and Vir13:8, with pyramided resistance genes
Jana Jarošová, Khushwant Singh, Jana Chrpová, Jiban Kumar Kundu   +3 more
doaj   +1 more source

Comparison of molecular diagnostic approaches for the detection and differentiation of the intestinal protist Blastocystis sp. in humans

Parasite, 2022
Blastocystis is the most commonly found intestinal protist in the world. Accurate detection and differentiation of Blastocystis including its subtypes (arguably species) are essential to understand its epidemiology and role in human health.
Šloufová Martina, Lhotská Zuzana, Jirků Milan, Petrželková Klára J., Stensvold C. Rune, Cinek Ondřej, Pomajbíková Kateřina Jirků   +6 more
doaj   +1 more source

Emerging PCR-Based Techniques to Study HIV-1 Reservoir Persistence

Viruses, 2020
While current antiretroviral therapies are able to halt HIV-1 progression, they are not curative, as an interruption of treatment usually leads to viral rebound.
Laurens Lambrechts, Basiel Cole, Sofie Rutsaert, Wim Trypsteen, Linos Vandekerckhove   +4 more
doaj   +1 more source

The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia

Сибирский онкологический журнал, 2018
Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods.
M. S. Anisimenko, G. A. Paul, A. E. Kozyakov, N. I. Gutkina, D. A. Berdyugina, A. Yu. Garanin, A. V. Butorina, E. V. Gornostaeva, K. F. Khafizov, Yu. V. Vyatkin, D. N. Shtokalo, S. P. Kovalenko   +11 more
doaj   +1 more source

An extracellular matrix-related prognostic and predictive indicator for early-stage non-small cell lung cancer

Nature Communications, 2017
Prognosis and prediction of adjuvant chemotherapy response in non-small cell lung cancer can have significant clinical impact. Here, the authors show that differential expression of a 29 extracellular matrix gene indicator, EPPI, can predict patient ...
Su Bin LIM, Swee Jin TAN, Wan-Teck LIM, Chwee Teck LIM   +3 more
doaj   +1 more source

Comprehensive Genomic Characterization of a Drug-Resistant Klebsiella pneumoniae Clinical Isolate in Iraq Using Whole Genome Sequencing [PDF]

Iranian Journal of Medical Sciences
Background: Klebsiella pneumoniae is a Gram-negative encapsulated opportunistic pathogen, which presents a major threat to public health due to its ability for multi-antibiotic drug resistance.
Sarah M.S. Alsallameh, Hamzah Abdulrahman Salman, Khattab Al-Khafaji, Ozgur Kuzukiran   +3 more
doaj   +1 more source

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

RNA Biology, 2022
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou   +17 more
doaj   +1 more source