Background Every tumor is composed of heterogeneous clones, each corresponding to a
distinct subpopulation of cells that accumulated different types of somatic mutations, ranging …

In some patients with myeloproliferative neoplasms (MPN), two genetic mutations are often
found: JAK2 V617F and one in the TET2 gene. Whether one mutation is present influences …

Identifying and distinguishing risk factors for heterogeneous disease subtypes has been of
great interest. However, missingness in disease subtypes is a common problem in those …

Motivation Signaling pathways control cellular behavior. Dysregulated pathways, for
example, due to mutations that cause genes and proteins to be expressed abnormally, can …

Every tumor is composed of heterogeneous clones, each corresponding to a distinct
subpopulation of cells that accumulated different types of somatic mutations, ranging from …

Certain nucleotide sequences in DNA can change their positions. Such nucleotide
sequences might be shorter than a general gene. When we restrict to nucleotide sequences …

The following thesis presents three independent studies which were carried out as part of
the author's doctoral studies in the Computational Biology Group at the Department of …

In some patients of myeloproliferative neoplasm, two genetic mutations can be found: JAK2
V617F and TET2. When one mutation is present or not, the other mutation has different …

Continuous innovations and advances in sequencing technologies have led to the birth and
development of several fields of research. In this thesis we propose four methods to address …