Global ETD Search

1	Familial Studies in Whole Exome and Genome Sequencing Farlow, Janice L. January 2015 (has links) Indiana University-Purdue University Indianapolis (IUPUI) / Population genetics has been revolutionized by the advent of high-throughput sequencing (HTS) methods in the 21st century. Modern day sequencers are now capable of sequencing entire exomes and genomes at unprecedented speed and accuracy. An explosion of bioinformatics software and data analysis tools now makes sequencing accessible for gene discovery in both rare Mendelian and complex disease. Family-based sequencing studies in particular have great potential for elucidating the genetic basis for many more diseases. We apply both whole exome and genome sequencing to three different cases of familial disease: intracranial aneurysm (IA), Parkinson disease (PD), and X-linked ataxia dementia (XLAD). IA and PD are both common, complex traits that inflict a devastating disease burden worldwide, mostly due to few effective therapeutic interventions. Little of the heritability of both IA and PD has been explained to date, especially as it relates to the impact of rare variation on disease. XLAD is an extremely rare neurological disease described thus far in one kindred. Although promising results have been achieved through previous genetic study designs, the causative gene has not yet been identified. For all three diseases, HTS offers an opportunity to explore the role of rare variation in disease pathogenesis. In each study, we explore the opportunities and challenges of family-based HTS for different disease models. The work presented herein contributes effective practices for study design, analysis, and interpretation in a rapidly growing field still replete with questions about how best to implement HTS in studying familial disease. genetics, sequencing
2	Characterization of circulating free DNA in healthy and diseased individuals / Maniesh van der Vaart Van der Vaart, Maniesh January 2009 (has links) Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2009. Circulating DNA Plasma Sequencing 454 sequencing TM
3	Characterization of circulating free DNA in healthy and diseased individuals / Maniesh van der Vaart Van der Vaart, Maniesh January 2009 (has links) Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2009. Circulating DNA Plasma Sequencing 454 sequencing TM
4	Exploring the Sequence Landscape of the Four-helix Bundle Protein ROP using DeepSequencing Panneerselvam, Nishanthi January 2013 (has links) No description available. Biophysics Biochemistry Deep sequencing Illumina sequencing ROP
5	Structural and synthetic studies on biologically interesting peptides Daley, Donald John January 1987 (has links) No description available. 572 Peptide sequencing techniques
6	A molecular genetic analysis of yeast chromosome IX Smith, Victoria January 1992 (has links) No description available. 572.8 DNA sequencing
7	Studies on the Epstein-Barr virus genome Gibson, T. J. January 1984 (has links) No description available. 579 DNA sequencing methodology
8	Neuroanatomy and phylogeny of cannabinoid signalling Egertova, Michaela January 1999 (has links) No description available. 572.8 Drosophila genome sequencing
9	Novel peptide discovery : isolation and characterisation of peptides with antidiabetic properties from the skin secretions of amphibians Marenah, Lamin January 2001 (has links) No description available. 615.9 Peptide sequencing
10	The physical map of the genome of Caenorhabditis elegans Coulson, Alan Robert January 1994 (has links) No description available. 572.8 Genomic sequencing

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