Associating rare genetic variants with human diseases

Associating rare genetic variants with human diseases

Citation: Zhang Q (2015) Associating rare genetic variants with human diseases. Genome researches have revealed that a large portion (over 50%) of genetic variants on human chromosomes are rare variants (RVs) with extremely low allele frequency (usually defined as less than 1%) in populations. In recent years, advances of DNA genotyping and sequencing technologies have been facilitating the dis...

Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

Improved Detection of Rare Genetic Variants for Diseases

Technology advances have promoted gene-based sequencing studies with the aim of identifying rare mutations responsible for complex diseases. A complication in these types of association studies is that the vast majority of non-synonymous mutations are believed to be neutral to phenotypes. It is thus critical to distinguish potential causative variants from neutral variation before performing as...

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Creatine kinase (CK) and lactate dehydrogenase (LDH) are widely used markers of tissue damage. To search for sequence variants influencing serum levels of CK and LDH, 28.3 million sequence variants identified through whole-genome sequencing of 2,636 Icelanders were imputed into 63,159 and 98,585 people with CK and LDH measurements, respectively. Here we describe 13 variants associating with ser...

Rare Genetic Variants and High-Density Lipoprotein

Although static plasma concentration of high-density lipoprotein cholesterol (HDL-C), usually measured in the fasting state, is an excellent marker of atherosclerosis risk, its direct causal role in atherogenesis has lately been called into question. Strong evidence refuting a causal protective role for HDL has come from studies of rare genetic variants that affect plasma HDL-C concentrations. ...