Associating rare genetic variants with human diseases.

Qunyuan Zhang

doi:10.3389/fgene.2015.00133

Abstract

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 discovery of RVs, and the association between RVs and human diseases is of rapidly growing interest in understanding genetic and molecular mechanism of both common and rare diseases (Cirulli and Goldstein, 2010; Gibson, 2012).

Highlights

Specialty section: This article was submitted to Statistical Genetics and Methodology, a section of the journal Frontiers in Genetics
Genome researches have revealed that a large portion of genetic variants on human chromosomes are rare variants (RVs) with extremely low allele frequency in populations
Advances of DNA genotyping and sequencing technologies have been facilitating the discovery of RVs, and the association between RVs and human diseases is of rapidly growing interest in understanding genetic and molecular mechanism of both common and rare diseases (Cirulli and Goldstein, 2010; Gibson, 2012)

Summary

Introduction

Specialty section: This article was submitted to Statistical Genetics and Methodology, a section of the journal Frontiers in Genetics. 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.

Results

Conclusion