Human exome sequencing and prospects for predictive medicine: Analysis of international data and own experience
OS Glotov, AN Chernov, AS Glotov - Journal of Personalized Medicine, 2023 - mdpi.com
Today, whole-exome sequencing (WES) is used to conduct the massive screening of
structural and regulatory genes in order to identify the allele frequencies of disease …
structural and regulatory genes in order to identify the allele frequencies of disease …
1k-RiCA (1K-Rice Custom Amplicon) a novel genoty** amplicon-based SNP assay for genetics and breeding applications in rice
Background While a multitude of genoty** platforms have been developed for rice, the
majority of them have not been optimized for breeding where cost, turnaround time …
majority of them have not been optimized for breeding where cost, turnaround time …
Development of a comprehensive sequencing assay for inherited cardiac condition genes
Inherited cardiac conditions (ICCs) are characterised by marked genetic and allelic
heterogeneity and require extensive sequencing for genetic characterisation. We iteratively …
heterogeneity and require extensive sequencing for genetic characterisation. We iteratively …
Multiplex PCR targeted amplicon sequencing (MTA-Seq): simple, flexible, and versatile SNP genoty** by highly multiplexed PCR amplicon sequencing
Y Onda, K Takahagi, M Shimizu, K Inoue… - Frontiers in plant …, 2018 - frontiersin.org
Next-generation sequencing (NGS) technologies have enabled genome re-sequencing for
exploring genome-wide polymorphisms among individuals, as well as targeted re …
exploring genome-wide polymorphisms among individuals, as well as targeted re …
Linking genes to cardiovascular diseases: gene action and gene–environment interactions
A Pasipoularides - Journal of cardiovascular translational research, 2015 - Springer
A unique myocardial characteristic is its ability to grow/remodel in order to adapt; this is
determined partly by genes and partly by the environment and the milieu intérieur. In the …
determined partly by genes and partly by the environment and the milieu intérieur. In the …
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
I Mademont-Soler, J Mates, R Yotti, MA Espinosa… - PLoS …, 2017 - journals.plos.org
Introduction Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart
disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic …
disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic …
Identification of novel candidate markers of type 2 diabetes and obesity in Russia by exome sequencing with a limited sample size
YA Barbitoff, EA Serebryakova, YA Nasykhova… - Genes, 2018 - mdpi.com
Type 2 diabetes (T2D) and obesity are common chronic disorders with multifactorial
etiology. In our study, we performed an exome sequencing analysis of 110 patients of …
etiology. In our study, we performed an exome sequencing analysis of 110 patients of …
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy
SN Manivannan, S Darouich, A Masmoudi… - PLoS …, 2020 - journals.plos.org
Hypertrophic cardiomyopathy (HCM) is characterized by thickening of the ventricular muscle
without dilation and is often associated with dominant pathogenic variants in cardiac …
without dilation and is often associated with dominant pathogenic variants in cardiac …
Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders
S Martin, T Jenewein, C Geisen… - BMC cardiovascular …, 2024 - Springer
Background Genetic diagnostics support the diagnosis of hereditary arrhythmogenic
diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the …
diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the …
Emergent biomarker derived from next-generation sequencing to identify pain patients requiring uncommonly high opioid doses
D Kringel, A Ultsch, M Zimmermann… - The …, 2017 - nature.com
Next-generation sequencing (NGS) provides unrestricted access to the genome, but it
produces 'big data'exceeding in amount and complexity the classical analytical approaches …
produces 'big data'exceeding in amount and complexity the classical analytical approaches …