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.
Results
Showing 1 to 20 of 218 for “"exome"”.
-
Analysis of Exome Sequencing in Hepatocellular Carcinoma
… in the integrated analysis including the whole exome sequencing to identify mutations and the gene expression profiling using microarray to identify differentially expressed genes. Two subgroups were obtained from gene expression studies, and divided according to the clinically diagnosed tumor …
-
Whole-exome sequencing of cases with familial 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 disease genes. Therefore, the aims of this investigation were to utilise exome sequencing to identify …
-
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 …
-
Content Analysis of Consent Forms for Clinical Whole Exome Sequencing
… informed consent forms for clinical whole exome sequencing (WES) in order to identify the level of consistency with the recommendations from the Presidential Commission for the Study of Bioethical Issues and the American College of Medical Genetics and Genomics (ACMG) regarding informed …
-
Tumor Antigens Revealed by Exome Seqeuncing Drive Editing of Tumor Immunogenicity
… checkpoint blockade immunotherapy: anti-CTLA-4). Exome sequencing of these tumors has laid the groundwork for the eventual identification of the antigens targeted for destruction by this form of cancer immunotherapy. Taken together, these studies demonstrate that antigens drive the cancer …
-
Identification of RNA editing in the human exome and development of DARNED DatabaseSF
RNA editing is a biological phenomena that alters nascent RNA transcripts by insertion, deletion and/or substitution of one or a few nucleotides. It is ubiquitous in all kingdoms of life and in viruses. The predominant editing event in organisms with a developed central nervous system is Adenosine …
-
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 …
-
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 …
-
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 …
-
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 …
-
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 …
-
Bioinformatics Analysis of Whole-Exome Sequencing Data for the Identification of Nuclear and Chloroplast Diversity in Barley
… to targeted sequencing. In this study, targeted exome sequencing data from a large set of diverse geo-referenced barley germplasm have been used to study nuclear and chloroplast genetic diversity associated with geography and environmental factors. In order to assess the performance of two of the …
-
Genetic Determinants of Human Susceptibility to Infections: A Multi-faceted Exome-based Analysis in the UK Biobank
… studies (GWAS), particularly in the context of exome sequencing. This thesis begins with a comprehensive literature review, which explores how advancements in sequencing technologies and analytical methods have revolutionized our understanding of genetic contributions to complex traits, …
-
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 …
-
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. …
-
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 …
-
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 …
-
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 …
Page 1 of 11