Search results for "Next Generation Sequencing"
showing 10 items of 40 documents
The child with overgrowth between clinical variability and genetic heterogeneity
2020
Either in the newborn or in the child overgrowth can be generalized or localized if it is limited to one or more body regions. When overgrowth depends on a metabolic imbalance, or it is constitutional, the excessive growth can be the only clinical sign. In most cases genomic or epigenetic alterations, which affect factors involved in cell proliferation and/or regulation of gene expression (observed also in tumours), are related to overgrowth syndromes, in which excess growth may be associated with dysmorphic features, neuromotor/intellectual disabilities and behavioural disorders. These rare conditions are characterized by clinical and molecular overlap. The paper describes the cases of thr…
Metagenomic, microbiological, chemical and sensory profiling of Caciocavallo Podolico Lucano cheese
2023
In this study, Caciocavallo Podolico Lucano (CPL) cheese was deeply characterized for its bacterial community, chemical composition and sensory aspects. The entire cheese making process (from milk collection to ripened cheese) was performed by strictly applying the traditional protocol for CPL production in four dairy factories (A–D) representative of the production area. The vat made of wood represents the main transformation tool for CPL cheese production and the biofilms hosted onto the internal surfaces of all vats analyzed in this study were dominated by lactic acid bacteria. Total mesophilic microorganisms present in bulk milk (4.7–5.0 log CFU/ml) increased consistently after contact …
INVESTIGATION OF BIOTIC STRESS RESPONSES IN FRUIT TREE CROPS USING META-ANALYTICAL TECHNIQUES.
2020
In recent years, RNA sequencing and analysis using Next Generation Sequencing (NGS) methods have enabled to understand the gene expression pertaining to plant biotic and abiotic stress conditions in both quantitative and qualitative manner. The large number of transcriptomic works published in plants requires more meta-analysis studies that would identify common and specific features in relation of the high number of objective studies performed at different developmental and environmental conditions. Meta-analysis of transcriptomic data will identify commonalities and differences between differentially regulated gene lists and will allow screen which genes are key players in gene-gene and p…
Genomic characterization of mosaic cutaneous pigmentary disorders
2019
Ntroduction: Mosaic cutaneous dyschromia is strongly evocative of an underlying genetic mosaicism. These post-zygotic events are challenging for conventional diagnostic tools. Thus, genetic basis of mosaic cutaneous dyschromia still remained poorly understood. Materials and Methods: The M.U.S.T.A.R.D. cohort gathers DNA from skin biopsies of patients with mosaic cutaneous dyschromia. After a specialised phenotype analysis, they are referred to either trio exome sequencing (ES) at 200X, or targeted ultra-deep sequencing (60,000X) of candidate genes. Data are analysed with a tailored pipeline, allowing detection of both low-rate nucleotidic variations or chromosomal events. Results: From 2013…
Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
2020
Abstract A JAK2V617F‐negative polycythemia associated with low serum epo needs to be tested for an exon 12 JAK2 mutation. When negative, due to potential serious complications in PV, a next generation sequencing is necessary to rule out false negative results.
Systemic circulating microRNA landscape in Lynch syndrome
2022
AbstractMicroRNAs (miRs) are non-coding RNA-molecules that regulate gene expression. Global circulating miR (c-miR) expression patterns (c-miRnome) change with carcinogenesis in various sporadic cancers. Therefore, aberrantly expressed c-miRs could have diagnostic, predictive and prognostic potential in molecular profiling of cancers. c-miR functions in carriers of inherited pathogenic mismatch-repair gene variants (path_MMR), also known as Lynch syndrome (LS), have remained understudied. LS cohort provides an ideal population for biomarker mining due to increased lifelong cancer risk and excessive cancer occurrence. Using high-throughput sequencing and bioinformatic approaches, we conducte…
Aplicacions de Next Generation Sequencing en organismes no model: caracterització dels transcriptomes de verins de serps
2015
Tesis doctoral. 213 páginas. Figuras, bibliografía y anexos.
Targeting the tumor mutanome for personalized vaccination therapy
2012
Next generation sequencing enables identification of immunogenic tumor mutations targetable by individualized vaccines. In the B16F10 melanoma system as pre-clinical proof-of-concept model, we found a total of 563 non-synonymous expressed somatic mutations. Of the mutations we tested, one third were immunogenic. Immunization conferred in vivo tumor control, qualifying mutated epitopes as source for effective vaccines.
Usher syndrome : molecular analysis of USH2 genes and development of a next-generation sequencing platform
2013
El síndrome de Usher (USH) es una enfermedad hereditaria autosómica recesiva, caracterizada por la asociación de hipoacusia neurosensorial, retinosis pigmentaria y, en ocasiones, alteración de la función vestibular. Clínicamente, el USH se puede clasificar en tres tipos (USH1, USH2 y USH3), principalmente en base a la gravedad y progresión de la hipoacusia y presencia o no de disfunción vestibular. El USH es heterogéneo tanto a nivel clínico como genético y, hasta la fecha, se han descrito 11 genes implicados en la enfermedad. El USH2 es la forma más común y tres son los genes responsables conocidos: USH2A (72 exones), GPR98 (90 exones) y DFNB31 (12 exones). USH2A es responsable de más del …