Towards practical, high-capacity, low-maintenance information storage in synthesized DNA, by Nick Goldman, Paul Bertone, Siyuan Chen, Christophe Dessimoz, Emily M. LeProust, Botond Sipos & Ewan Birney published in Nature (2013) doi:10.1038/nature11875. Abstract Digital production, transmission and storage have revolutionized how we access and use information but have also made archiving an increasingly complex task that [...]
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 [...]
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 [...]
Differential analysis of gene regulation at transcript resolution with RNA-seq
Differential analysis of gene regulation at transcript resolution with RNA-seq by Cole Trapnell, David G Hendrickson, Martin Sauvageau, Loyal Goff, John L Rinn & Lior Pachter published in Nature Biotechnology (2012) doi:10.1038/nbt.2450 Abstract Differential analysis of gene and transcript expression using high-throughput RNA sequencing (RNA-seq) is complicated by several sources of measurement variability and poses [...]