Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants




Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants by Wenqing Fu et. al. published in Nature (2012) doi:10.1038/nature11690. Abstract Establishing the age of each mutation segregating in contemporary human populations is important to fully understand our evolutionary history1, 2 and will help to facilitate the development of new approaches for […]






Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes




Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes by Jacob A. Tennessen, et. al. published in Science 6 July 2012, Vol. 337 no. 6090 pp. 64-69 DOI: 10.1126/science.1219240 Abstract As a first step toward understanding how rare variants contribute to risk for complex diseases, we sequenced 15,585 human protein-coding […]






De novo mutations revealed by whole-exome sequencing are strongly associated with autism




De novo mutations revealed by whole-exome sequencing are strongly associated with autism by Stephan J. Sanders et. al.. published in Nature 485, 237–241 (10 May 2012) doi:10.1038/nature10945. Abstract Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants […]






Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations




Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations by Brian J. O’Roak et. al. published in Nature 485, 246–250 (10 May 2012) doi:10.1038/nature10989. Abstract It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is […]






Genetic diagnosis by whole exome capture and massively parallel DNA sequencing




Genetic diagnosis by whole exome capture and massively parallel DNA sequencing by Murim Choi et. al. published in Proc Natl Acad Sci U S A. 2009 November 10; 106(45): 19096–19101. Abstract Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, […]






Can Exome Sequencing Help Us Understand Complex Traits?




Exome sequencing, sequencing the parts of the genome that codes for proteins, has been the go to approach identifying gene variant that may be causing simple mendelian traits and for personal genomic studies. However, the use of exome sequencing data for understanding complex traits is yet to be unexplored. (Well, this is true in general […]