Simple Summary The Finnish population has evolved through multiple reductions in the
population size, which have caused decreased genetic diversity in the population. This may …

Genome-wide studies of patients carrying pathogenic variants (mutations) in BRCA1 or
BRCA2 have reported strong associations between single-nucleotide polymorphisms …

Background Women with breast cancer who have multiple affected relatives are more likely
to have inherited genetic risk factors for the disease. All the currently known genetic risk …

The papers published in this Special Issue “SNP arrays”(Single Nucleotide Polymorphism
Arrays) focus on several perspectives associated with arrays of this type. The range of …

Copy number variation (CNV) of DNA plays an important role in the development of many
diseases. However, due to the irregularity and sparsity of the CNVs, studying the association …

Genome diversity comprises single nucleotide polymorphisms, deletions, insertions, and
duplications. These gains and losses of DNA segments leading to rearrangements of …

Motivation Copy number variation plays important roles in human complex diseases. The
detection of copy number variants (CNVs) is identifying mean shift in genetic intensities to …

Copy number variants (CNVs) may cover up to 12% of the whole genome and have
substantial impact on phenotypes. We used 5867 duplications and 33,181 deletions …

1. Wintergerst L, Selmansberger M, Maihoefer C, Schüttrumpf L, Walch A, Wilke C, Pitea A,
Woischke C, Baumeister P, Kirchner T, Belka C, Ganswindt U, Zitzelsberger H, Unger K …

Genome-wide studies of patients carrying pathogenic variants (mutations) in BRCA1 or
BRCA2 have reported strong associations between single-nucleotide polymorphisms …