— Coalescent-based species tree inference has become widely used in the analysis of genome-scale multilocus and SNP datasets when the goal is inference of a species-level phylogeny. However, numerous evolutionary processes are known to violate the assumptions of a coalescence-only model and complicate inference of the species tree. One such process is hybrid speciation, in which a species share...

A Single Nucleotide Polymorphism (SNP) is a small DNA variation which occurs naturally between different individuals of the same species. Some combinations of SNPs in the human genome are known to increase the risk of certain complex genetic diseases. This paper formulates the problem of identifying such disease-associated SNP motifs as a combinatorial optimization problem and shows it to be NP...

Integration of molecular information in breeding value estimation. For many years, breeding value estimation in domestic animal species has been based on the polygenic model. This model relies exclusively on pedigree and phenotypic informations. Molecular markers make it possible to follow the transmission of genes affecting phenotypes and, therefore, has opened new perspectives for evaluation ...

Abstract Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of fetuses with is still unknown. This study aimed to evaluate genetic and clinical value chromosomal abnormalities copy number variations (CNVs) in markers. Methods Among 1131 fetuses, 729 had single marker, 322 two markers, 80 three or more All underwent conventional karyotyping,...

To fulfill the increasing need for large-scale genetic research, we have developed a new solid-phase single base extension (SBE) protocol on magnetic nanoparticles (MNPs) for multiplex SNP detection using adapter polymerase chain reaction (PCR) products as templates. Extension primers were covalently immobilized on the MNPs, and allele-specific extension took place along the stretch of target D...

Amplification, deletion, and loss of heterozygosity of genomic DNA are hallmarks of cancer. In recent years a variety of studies have emerged measuring total chromosomal copy number at increasingly high resolution. Similarly, loss-of-heterozygosity events have been finely mapped using high-throughput genotyping technologies. We have developed a probe-level allele-specific quantitation procedure...