Results 21 to 30 of about 380,610 (181)

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline [PDF]

, 2018
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment.
Amanti, C, De Marchis, L, Germani, A, Libi, F, Lombardi, A, Maggi, S, Mattei, M, Pellegrini, P, Piane, M, Pizzuti, A, Stanzani., G, Torrisi, Mr   +11 more
core   +1 more source

BamView: visualizing and interpretation of next-generation sequencing read alignments. [PDF]

, 2012
So-called next-generation sequencing (NGS) has provided the ability to sequence on a massive scale at low cost, enabling biologists to perform powerful experiments and gain insight into biological processes.
Berriman, Matthew, Carver, Tim, Harris, Simon R., McQuillan, Jacqueline A., Otto, Thomas D., Parkhill, Julian   +5 more
core   +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

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

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

Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy. [PDF]

, 2017
Current cell-free DNA (cfDNA) next generation sequencing (NGS) precision oncology workflows are typically limited to targeted and/or disease-specific applications.
Alva, Ajjai S, Brockman, Scott, Chinnaiyan, Arul M, Chugh, Rashmi, Feng, Felix Y, Grasso, Catherine S, Gursky, Amy, Haakenson, Christine, Henderson, James, Herman, Kirk, Hovelson, Daniel H, Husain, Hatim, Hussain, Maha H, Kamberov, Emmanuel, Kandarpa, Malathi, Kang, Qing, Krauss, John C, Langmore, John, Liu, Chia-Jen, Lonigro, Robert J, Mills, Ryan E, Morgan, Todd M, Quist, Michael J, Ramnath, Nithya, Robinson, Dan, Smith, David C, Talpaz, Moshe, Tesmer, Tim, Tewari, Muneesh, Tomlins, Scott A, Tuck, Missy, Wang, Yugang   +31 more
core   +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

MarkerMiner 1.0: a new application for phylogenetic marker development using angiosperm transcriptomes [PDF]

, 2015
Premise of the study: Targeted sequencing using next-generation sequencing (NGS) platforms offers enormous potential for plant systematics by enabling economical acquisition of multilocus data sets that can resolve difficult phylogenetic problems ...
Berbazuk, W Brad, Chamala, Srikar, De Smet, Riet, García, Nicolás, Godden, Grant T, Jordon-Thaden, Ingrid E, Krishnakumar, Vivek, Soltis, Douglas E, Soltis, Pamela S   +8 more
core   +3 more sources

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