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 4 of 4 for “"copy-neutral loss of heterozygosity"”.
-
Computational Frameworks to Interpret Genetic Abnormalities in Hematologic Malignancies
In the era of high throughput sequencing technologies, the speed of genomic data generation exceeds our abilities to store, analyze and interpret the data without high-performance computing facilities. In hematology, next-generation sequencing (NGS) is being utilized for diagnosis, prognostication, …
-
Utilizing Haplotypes For Sensitive Snp Array-Based Discovery of Somatic Chromosomal Mutations
<p>Somatic copy-number (CN) gains and losses and copy-neutral loss of heterozygosity (CNLOH) frequently occur in tumors and play a major role in the progression of disease by altering gene dosage and unmasking deleterious recessive variants. Characterizing these mutations in an individual tumor …
-
Computational Insights Into The Generation of Chromosomal Copy Number Changes
<p>Deviations from a diploid configuration of the human genome, spanning single genes or entire chromosomes, can have wide-ranging impacts on the variation of human phenotypes, including Mendelian and complex forms of diseases. These chromosomal alterations — such as duplications, deletions or …
-
Novel genomic technologies and molecular diagnostics in Colorectal Cancer
Cancer is a disease of the genome that is characterized by substantial variability in the clinical course and response to therapies. Colorectal cancer (CRC) is a heterogeneous cancer and represents an ideal model to investigate and elucidate the genetic alterations involved in tumor onset and …