background: previous studies have shown that leukemogenic chromosomal translocations, including fusions between break point cluster region (bcr) and abelson (abl) are present in the peripheral blood of healthy individuals. the aim of this study was to gain insights into the genetic alterations other than bcr-abl translocation in molecular level, which cause chronic myeloid leukemia (cml). metho...

As the cost of DNA sequencing decreases, association studies based on whole genome sequencing are now becoming feasible. It is still unclear, however, how much more we could gain from whole genome sequencing compared to exome sequencing, which has been widely used to study a variety of diseases. In this project, we performed a comparison between whole genome sequencing and exome sequencing for ...

...................................................................................................................... iv TABLE OF CONTENTS ................................................................................................... vi LIST OF TABLES ........................................................................................................... viii LIST OF FIGURES .............

Next-generation whole genome sequencing of microbes demands rapid, robust, and scalable library construction workflows, capable of generating high-quality sequence data across a wide range of genome sizes, complexities and genomic GC content. In this Application Note, we describe a streamlined library preparation method that results in minimal bias, high uniform coverage, and facilitates de nov...

With the increasing popularity of whole-genome shotgun sequencing (WGSS) via high-throughput sequencing technologies, it is becoming highly desirable to perform comparative studies involving multiple individuals (from a specific population, race, or a group sharing a particular phenotype). The conventional approach for a comparative genome variation study involves two key steps: (1) each paired...

With full genome sequencing of bacterial genomes becoming more affordable, the number of publications, which deploy this elegant and modern technique is rapidly increasing. Full genome sequences of hundreds of bacterial strains have been determined and described. However, on reading some of the literature, sometimes one wonders if the use of this method with enormous resolving power is really ‘...

July-August 2014 Genomic research—including whole genome sequencing and whole exome sequencing— has a growing presence in contemporary biomedical investigation. The capacity of sequencing techniques to generate results that go beyond the primary aims of the research—historically referred to as “incidental findings”—has generated considerable discussion as to how this information should be handl...

Background We are in an unprecedented era where the genome of an individual can be sequenced in a day for low cost in a single sequencing run. The availability this information is changing and challenging the practice of medicine. At The Medical College of Wisconsin (MCW) we have been running a whole genome sequencing (WGS) based genetics clinic for over a year. WGS together with the processes ...