Relevant bibliographies by topics / Sequenziamento NGS

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  1. Journal articles
  2. Dissertations / Theses

Academic literature on the topic 'Sequenziamento NGS'

Author: Grafiati
Published: 11 March 2023
Last updated: 31 July 2025

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Journal articles on the topic "Sequenziamento NGS"

1

PRADELLA, Marco. "Qualità dei metodi di sequenziamento massivo parallelo/sequenziamento di nuova generazione (MPS/NGS)." La Rivista Italiana della Medicina di Laboratorio, May 2023. http://dx.doi.org/10.23736/s1825-859x.23.00190-1.

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Dissertations / Theses on the topic "Sequenziamento NGS"

1

Alessandrini, Gaia. "Metodi innovativi per il sequenziamento di acidi nucleici." Bachelor's thesis, Alma Mater Studiorum - Università di Bologna, 2014. http://amslaurea.unibo.it/7341/.

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Giannini, Simone. "Strumenti statistici per elaborazione dati su sequenziamenti di genoma umano." Bachelor's thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amslaurea.unibo.it/12059/.

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L'analisi del DNA è una delle chiavi per la comprensione della vita e dei suoi funzionamenti. Le tecniche di sequenziamento di nuova generazione NGS permettono una analisi parallela di molte sequenze che hanno reso possibili i sequenziamenti di genomi interi e l'impiego di questi dati in una vasta gamma di studi. In questa tesi verranno descritte le principali tecniche di sequenziamento NGS. Per quanto riguarda il genoma umano si tratteranno alcune tematiche di studio di varianti affrontate dal gruppo 1000Genomes. Nella fase conclusiva si introdurranno definizioni di statistica utili nell'affr
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3

Rossi, Silvia. "Applicazione comparativa di metodiche di sequenziamento di nuova generazione (NGS) nella diagnosi di Neurofibromatosi di tipo 1." Doctoral thesis, Università degli studi di Padova, 2017. http://hdl.handle.net/11577/3424848.

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Neurofibromatosis type 1 is one of the most frequent autosomal dominant diseases affecting 1 in 3000 individual worldwide. This disorder is caused by heterozygous inactivating mutations of NF1, a large gene that encodes neurofibromin, a negative regulator of the RAS pathway. The mutation rate at the NF1 locus is one of the highest reported in any human disorder; this observation is reflected in the finding that almost 50% of all NF1 patients exhibit a de novo NF1 mutation. More than 1900 different NF1 mutations have been reported and listed in the Leiden Open Variation Database (LOVD). Splici
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4

Antonioli, Marta. "Effects of natural drivers on marine prokaryotic community structure." Doctoral thesis, Università degli studi di Trieste, 2014. http://hdl.handle.net/10077/10136.

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2012/2013<br>Heterotrophic nanoflagellate (HNF) grazing is one of the major source of prokaryotic mortality in marine ecosystems, acting as a strong selection pressure on communities. Protozoans may thus affect prokaryotic abundance and alter the diversity and the taxonomic composition of the prey community, as individual prokaryotes can develop distinct grazing-resistant mechanisms. Moreover, the microbial loop is well known to regulate carbon fluxes in surface marine environments but few studies have quantified the impact of HNF predation on prokaryotes in the dark ocean. The present work wa
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5

SCOTTON, Chiara. "STUDIO DELL’ESOMA MEDIANTE TECNOLOGIE DI GENOTIPIZZAZIONE AD ALTA EFFICIENZA: SEQUENZIAMENTO DI NUOVA GENERAZIONE (NGS) e IBRIDAZIONE GENOMICA COMPARATIVA (CGH), PER L’IDENTIFICAZIONE DI NUOVI GENI MALATTIA IN PATOLOGIE NEUROMUSCOLARI." Doctoral thesis, Università degli studi di Ferrara, 2013. http://hdl.handle.net/11392/2388854.

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Over the years many different approaches and techniques have been employed to get insight genetic data of family and patients. The first approach for genetic studies and gene discovery was the linkage analysis, but to be efficient it required large family or large numbers of patients sharing the same disease phenotype. The advent of sequencing technology made the genetic analysis more handy but still it was time consuming and not cost effective when a large number of genes needed to be screened , for example in case of diseases with a known genetic heterogeneity as the neuromuscular disorder
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6

Carraro, Marco. "Development of bioinformatics tools to predict disease predisposition from Next Generation Sequencing (NGS) data." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3426807.

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The sequencing of the human genome has opened up completely new avenues in research and the notion of personalized medicine has become common. DNA Sequencing technology has evolved by several orders of magnitude, coming into the range of $1,000 for a complete human genome. The promise of identifying genetic variants that influence our lifestyles and make us susceptible to diseases is now becoming reality. However, genome interpretation remains one the most challenging problems of modern biology. The focus of my PhD project is the development of bioinformatics tools to predict diseases predispo
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