Results 1 to 10 of about 114,077 (305)
JAX-CNV: A Whole-Genome Sequencing-Based Algorithm for Copy Number Detection at Clinical Grade Level
Genomics, Proteomics and Bioinformatics, 2022 We aimed to develop a whole-genome sequencing (WGS)-based copy number variant (CNV) calling algorithm with the potential of replacing chromosomal microarray assay (CMA) for clinical diagnosis.
Wan-Ping Lee, Qihui Zhu, Xiaofei Yang
exaly +3 more sources
CCND1 and PTEN genes as markers of progression in vulvar cancer
Исследования и практика в медицине, 2023 Purpose of the study. Studying the relative copy number of 12 genes: MYC, PTEN, CCND1, PIK3CA, TP53, CDKN2A, MDM2, MCL1, NFKBIA, MTAP, BIRC2, KMT2C, to search for potential prognostic cancer markers in vulvar cancer (VR).Patients and methods.
A. V. Busarova +3 more
doaj +1 more source
Indian Journal of Ophthalmology, 2022 Purpose: To analyze the structural features of subretinal hyper-reflective material (SHRM) in posterior uveitis using swept-source optical coherence tomography (SS-OCT) and optical coherence tomography angiography (SS-OCTA).
Atul Arora +7 more
doaj +1 more source
Detection of Copy number variation in Holstein cattle genome by using 50K [PDF]
مجله بیوتکنولوژی کشاورزی, 2014 Copy number variation (CNV) is important on biological mechanism. For CNV detection and distribution, three bovine autosomal chromosomes, BTA6, BTA14 and BTA6 that improved for quantitative trait loci (QTL) previously, were investigated.
Maryam Nosrati +2 more
doaj +1 more source
Revista Latinoamericana de Derechos Humanos, 2022 El texto presenta la discusión teórica hacia la noción del aula de ingreso como lugar curricular y el valor de la comunicación no verbal docente en las interacciones comunicacionales de los inicios de la formación.
Graciela B. Plachot González
doaj +1 more source
Multiplex ligation-dependent probe amplification – a short overview
Romanian Journal of Laboratory Medicine, 2020 Multiplex Ligation-dependent Probe Amplification is a technique proposed for the detection of deletions or duplications that may lead to copy number variations in genomic DNA, mainly due to its higher resolution, and shorter overall diagnosis time, when ...
Moldovan Valeriu, Moldovan Elena
doaj +1 more source
Microbial Cell, 2022 The emergence of drug resistance significantly hampers the treatment of human infections, including those caused by fungal pathogens such as Candida species.
Pedro Pais +4 more
doaj +1 more source
Fluorescein angiography compared to three-dimensional measurements by the retinal thickness analyzer in classic choroidal neovascularization [PDF]
, 2007 Purpose: To compare and correlate imaging of classic subfoveal choroidal neovascularization (CNV) with noninvasive 3-dimensional imaging by the retinal thickness analyzer (RTA) to conventional fluorescein angiography (FA).
Kampik, Anselm +3 more
core +1 more source
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]
, 2016 Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J. +17 more
core +1 more source
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 [PDF]
, 2018 CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV),
Altieri, Filomena +13 more
core +1 more source