Sökning: "Adam Ameur"
Hittade 4 avhandlingar innehållade orden Adam Ameur.
1. A Bioinformatics Study of Human Transcriptional Regulation
Sammanfattning : Regulation of transcription is a central mechanism in all living cells that now can be investigated with high-throughput technologies. Data produced from such experiments give new insights to how transcription factors (TFs) coordinate the gene transcription and thereby regulate the amounts of proteins produced. LÄS MER
2. Genetic Cartography at Massively Parallel Scale
Sammanfattning : Massively parallel sequencing (MPS) is revolutionizing genomics. In this work we use, refine, and develop new tools for the discipline.MPS has led to the discovery of multiple novel subtypes in Acute Lymphoblastic Leukemia (ALL). In Study I we screen for fusion genes in 134 pediatric ALL patients, including patients without an assigned subtype. LÄS MER
3. Targeted Long-read Sequencing : Development and Applications in Medical Genetics
Sammanfattning : Targeted sequencing has the advantage of providing pinpointed DNA information, while costs and data-analysis efforts are reduced. If targeted sequencing is combined with single molecule long-read sequencing, it can become a powerful tool to investigate genomic regions traditionally difficult using the predominantly used short-read sequencing platforms, including repetitive regions and large structural variants. LÄS MER
4. The role of hematopoietic chromosome Y loss in health and disease
Sammanfattning : Mosaic loss of chromosome Y (mLOY) is the most common somatic mutation, and affected men have increased risk for all major causes of death, including cardiovascular diseases and cancer. As a male specific mutation, it helps explain why men live shorter lives than women. LÄS MER