Genome-wide association studies (GWAS) have achieved great success in identifying single nucleotide polymorphisms (SNPs, herein called genetic variants) and genes associated with risk of developing prostate cancer. However, GWAS do not typically link the genetic variants to the disease state or inform the broader context in which the genetic variants operate. Here, we present a novel integrativ...

Several recent genome-wide association studies have identified genetic variants associated with breast cancer. However, how much these genetic variants may help advance breast cancer risk prediction based on other clinical features, like mammographic findings, is unknown. We conducted a retrospective case-control study, collecting mammographic findings and high-frequency/low-penetrance genetic ...

CSN1S1is one of the major genes encoding milk proteins of mammals. In this study we determined allele frequencies of CSN1S1-5` flanking region as well as exon 17 variants and their effects on milk traits in three indigenous cattle breeds Mazandarani, Golpaygani (Bos indicus) and Sarabi (Bos taurus) and Holstein cattle in Iran. CSN1S1*B variant was nearly fixed in Holstein but ranged from 0.40 t...

Two types of gammaG4 proteins, termed 4a and 4b, were characterized through antigenic studies of myeloma proteins. Both were recognized by specific antigens on the Fc fragment which were shared with other gammaG classes. The distinctive antigen of the common 4a type was shared with all gammaG1 and gammaG3 proteins but missing in those of the gammaG2 class; that for the rarer 4b type was selecti...

The proportion of genetic variation in complex traits explained by rare variants is a key question for genomic prediction, and for identifying the basis of "missing heritability"--the proportion of additive genetic variation not captured by common variants on SNP arrays. Sequence variants in transcript and regulatory regions from 429 sequenced animals were used to impute high density SNP genoty...

autosomal polycystic kidney disease (adpkd) is a genetic disorder with two causal pkd-1 and pkd-2. genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in african populations. we report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to adpkd. molecular genetic testing found a del...

personalized medicine aims is to supply the proper drug to the proper patient within the right dose. pharmacogenomics (pgx) is to recognize genetic variants that may influence drug efficacy and toxicity. all things considered, the fields cover a wide area, including basic drug discovery researches, the genetic origin of pharmacokinetics and pharmacodynamics, novel drug improvement, patient gene...

Deciphering the genetic basis of human disease requires a comprehensive knowledge of genetic variants irrespective of their class or frequency. Although an impressive number of human genetic variants have been catalogued, a large fraction of the genetic difference that distinguishes two human genomes is still not understood at the base-pair level. This is because the emphasis has been on single...

There are currently almost no genetic data associated with the acute coronary syndromes of unstable angina or myocardial infarction (MI). The only documented genetic variants associated with increased risk for MI, per se, are the A and B blood group variants. There are no genetic data differentially associated with ST segment elevation MI or non-ST segment elevation MI. Genetic variants predisp...

Genome-wide genotyping and DNA sequencing has led to the identification of large numbers of genetic variants that are associated with many clinical phenotypes. The functional impacts of most of the variants are unknown. In this article, we review high-throughput assays that have been developed to assess a variety of the functional impacts of the variants. A better understanding of their functio...