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 162 for “"Exome sequencing"”.
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Analysis of Exome Sequencing in Hepatocellular Carcinoma
… of known oncogenes was found from previous sequencing studies. The samples from HCC and surrounding liver samples were dissected from twelve HCC patients to investigate the pattern of tumor heterogeneity and analyze by subgroups, to be used in the integrated analysis including the whole …
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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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Identifying New Genes for Inherited Breast Cancer by Exome Sequencing
… to identify additional breast cancer genes by exome sequencing. In order to select families for gene discovery, we first screened families for mutations in all known breast cancer genes using targeted capture and massively parallel sequencing (BROCA). Families that remained unsolved after …
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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
… 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 showed …
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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
… 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 this …
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Whole exome sequencing: a customised approach to exploring the genetic basis of musculoskeletal soft tissue injuries
… 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 risk-associated …
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Evaluating Insurance Approval Rates of Exome Sequencing and Its Effect On Minority Patients' Access to Genetic Care
<p>Exome sequencing (ES) is often a standard step in the genetic testing process for patients with rare or complex disease. Despite clinical implementation of ES, insurance companies (payers) continue to deny this test. We investigated if the payer barrier is influenced by payer type, and if other …
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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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Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing
Tutkimuksessamme tarkastelimme Lähi-idästä lähtöisin olevaa perhettä, jossa kolmella viidestä lapsesta on todettu nuorellä iällä klassinen Hodgkinin lymfooma (cHL). Perinnöllinen alttius cHL:lle tunnetaan huonosti, eikä taudille mahdollisesti altistavia geenimuutoksia ole aiemmin raportoitui kuin …
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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
… 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 samples were …
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Whole-exome sequencing variant prioritization in individuals with tense and agreement marking deficit— a clinical marker of specific language impairment
… 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 suggest …
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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
… 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 novel …
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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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Using Next-Generation Sequencing to Identify Genes Mutated in Human Disorders
Next-generation sequencing – and, in particular, exome sequencing, the targeted application of next-generation sequencing to the coding portion of the genome – appeared on the scene, in the last decade, as a promising new way of efficiently searching for and successfully identifying causative …
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Nuovi approcci molecolari per lo studio di malattie monogeniche rare: utilizzo dell’exome sequencing per la ricerca di geni malattia
… discovery, like positional cloning and Sanger sequencing of candidate genes, have led, to date, to detect the genetic detrminants of about 3000 Mendelian phenotypes, representing about the 50% of genetic phenotypes known. In recent years many genes causing human genetic disorders have been …
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Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular 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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