Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 111 for “"whole exome sequencing"”.
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Whole-exome sequencing of cases with familial cardiomyopathy
… In a review of the role of next-generation sequencing in gene discovery, over 20 new cardiomyopathy genes were found to have been identified through exome sequencing of cardiomyopathy patients. The literature review also highlighted the need for functional validation of newly identified …
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Content Analysis of Consent Forms for Clinical Whole Exome Sequencing
As genomic sequencing becomes increasingly incorporated into clinical care, the patient informed consent process must successfully manage many ethical challenges, including whether to seek secondary findings and which results will be returned to the patient. The goal of the current study was to …
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SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS
… PAPASH, and PASH/SAPHO overlapping. Methods: Whole-exome sequencing (WES) approach was performed in ten patients with syndromic HS. Results: Three clinical settings have been identified based on presence/absence of gut and joint inflammation. Four PASH patients who had also gut inflammation …
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Joint whole exome sequencing and linkage analysis in a multigenerational family segregating Type 1 Diabetes
… across 3 generations. Methods: We performed exome sequencing in 3 affected members and a healthy individual. In addition, all samples were extensively genotyped using Illumina OmniExpress beadchips for about 750K SNPs. A combined linkage analysis was carried out. Results: This combined …
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Whole exome sequencing: a customised approach to exploring the genetic basis of musculoskeletal soft tissue injuries
… and/or new candidate variants identified by whole exome sequencing (WES) and prioritised through the application of a customised, tiered filtering strategy, were genotyped in several previously recruited, self-identified White Achilles tendon injury and ACL rupture cohorts. The second aim of …
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Whole exome sequencing: a customised approach to exploring the genetic basis of musculoskeletal soft tissue injuries
… from the list of new candidates identified by whole exome sequencing (WES) through the application of a customised tiered filtering strategy, were genotyped in several self-identified white AT and ACL rupture cohorts. The second aim of this study was to determine whether the observed …
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Bioinformatics Analysis of Whole-Exome Sequencing Data for the Identification of Nuclear and Chloroplast Diversity in Barley
… productivity.<br/><br/>Over the last decade, sequencing methodologies have improved enormously, improving our ability to identify genetic variants that can affect heritable phenotypes. However, sequencing whole genomes is still an expensive and time-consuming process compared to targeted …
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The use of whole exome sequencing data to identify candidate genes involved in cancer and benign tumour predisposition
The development of whole exome sequencing has transformed the study of disease predisposition. The sequencing of both large disease sets and smaller rare disease families enables the identification of new predisposition variants and potentially provide clinical insight into disease management. …
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Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry
… Hospital and Laquintinie Hospital in Cameroon. Whole exome sequencing DNA was extracted from whole blood using the salting out procedure and the Puregene Blood kit®. The DNA was subjected to spectrometry and gel electrophoresis to determine the quantity and quality of the DNA samples. The …
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Whole-exome sequencing variant prioritization in individuals with tense and agreement marking deficit— a clinical marker of specific language impairment
… for prioritization of rare exonic variants from whole-exome sequencing (WES) output under two filtering workflows (one targeting previous genetic reports). The current study uniquely combines family-specific filtering of the WES variants and cross-referencing of the familywise variant lists to …
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Genetic dissection of EGFRvIII brain and spinal mouse gliomas through whole-exome sequencing and in vivo piggyBac mutagenesis forward genetic screening
… of Trp53 and Tead2, and Cdkn2a deletion, through whole-exome sequencing. To shed further light on EGFR-cooperative genes for glioma progression, we conducted a genome-wide piggyBac transposon mutagenesis screen in vivo, which identified known glioma drivers (including Cdkn2a, Pten and Nf1) and …
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Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing
… and South Africa. This was addressed by 1) sequencing common variants in the most relevant genes in other populations (GJB2 and GJB6), 2) using a targeted gene panel to resolve HL in 10 multiplex families from Cameroon presenting with ARNSHL and negative for GJB2 and GJB6 mutations …
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Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular Cardiomyopathy
… cardiomyopathy have been unraveled. A previous whole exome sequencing project conducted in the United Kingdom (UK) had identified parvin alpha (PARVA) as a candidate gene in a South African family, ACM 8, with several members affected with arrhythmogenic right ventricular cardiomyopathy (ARVC). …
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The molecular genetics of familial cardiomyopathy
… mechanisms. Methods Through next generation sequencing techniques such as whole exome sequencing and targeted resequencing we studied three South African families with severe cardiomyopathy. Clinical diagnosis and recruitment of cardiomyopathy patients into the study was done at Groote Schuur …
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Analysis of genetic variations associated with arrhythmogenic right ventricular cardiomyopathy
… copy number variant (CNV) analysis and whole exome sequencing to identify the causal genetic variant. The ACM2 family harboured no disease-causing PLN variants. However, on screening all cardiomyopathy cases in our registry (ARVC, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy …
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Evaluation of Genetic Variants Influencing Susceptibility to Type 2 Diabetes Associated End-Stage Kidney Disease and Associated Phenotypes
… genetic methodologies, including whole exome sequencing and bioinformatic tools, in an effort to further elucidate the genetic architecture of T2D-ESKD and non-T2D ESKD in several samples of African Americans, and to a lesser extent, in European Americans.
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Identification of novel coding single nucleotide polymorphisms associated with acute respiratory distress syndrome
… as diagnostic and therapeutic targets. Whole-exome sequencing is an effective tool in detection of disease-causing genetic variants in complex genetic conditions such as acute respiratory distress syndrome (ARDS). To identify disease-causing variants in ARDS patients, whole-exome …
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Genetic determinants underlying rare diseases identified using next-generation sequencing technologies
… these diseases. The advent of next-generation sequencing has accelerated discovery of disease-causing genetic variants and is showing numerous benefits for research and medicine. I describe the application of next-generation sequencing, namely LipidSeq™ ‒ a targeted resequencing panel for the …
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The Emergence of Diverse Drug-Resistance Mechanisms from Drug Tolerant Cancer Persister Cells
… a combination of large-scale drug screening and whole-exome sequencing, that our erlotinib-resistant colonies had acquired diverse resistance mechanisms, including the most commonly observed clinical resistance mechanisms. Thus, the drug-tolerant persister state does not limit--and may even …
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