The expanding scope of DNA sequencing

J Shendure, EL Aiden - Nature biotechnology, 2012 - nature.com
In just seven years, next-generation technologies have reduced the cost and increased the
speed of DNA sequencing by four orders of magnitude, and experiments requiring many …

Genetic and epigenetic stability of human pluripotent stem cells

RJ Lund, E Närvä, R Lahesmaa - Nature Reviews Genetics, 2012 - nature.com
Studies using high-resolution genome-wide approaches have recently reported that
genomic and epigenomic alterations frequently accumulate in human pluripotent cells …

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

BJ O'Roak, L Vives, W Fu, JD Egertson, IB Stanaway… - Science, 2012 - science.org
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

[HTML][HTML] Induced pluripotent stem cells: past, present, and future

S Yamanaka - Cell stem cell, 2012 - cell.com
The development of iPSCs reflected the merging of three major scientific streams and has in
turn led to additional new branches of investigation. However, there is still debate about …

[HTML][HTML] Contribution of intragenic DNA methylation in mouse gametic DNA methylomes to establish oocyte-specific heritable marks

H Kobayashi, T Sakurai, M Imai, N Takahashi… - PLoS …, 2012 - journals.plos.org
Genome-wide dynamic changes in DNA methylation are indispensable for germline
development and genomic imprinting in mammals. Here, we report single-base resolution …

[HTML][HTML] The metabolome of induced pluripotent stem cells reveals metabolic changes occurring in somatic cell reprogramming

AD Panopoulos, O Yanes, S Ruiz, YS Kida, D Diep… - Cell research, 2012 - nature.com
Metabolism is vital to every aspect of cell function, yet the metabolome of induced pluripotent
stem cells (iPSCs) remains largely unexplored. Here we report, using an untargeted …

Concise review: Induced pluripotent stem cells versus embryonic stem cells: close enough or yet too far apart?

J Bilic, JCI Belmonte - Stem cells, 2012 - academic.oup.com
The state of a cell is defined by the genes it transcribes and the epigenetic landscape that
regulates their expression. Pluripotent cells have markedly different epigenetic signatures …

Identification of a specific reprogramming-associated epigenetic signature in human induced pluripotent stem cells

S Ruiz, D Diep, A Gore… - Proceedings of the …, 2012 - National Acad Sciences
Generation of human induced pluripotent stem cells (hiPSCs) by the expression of specific
transcription factors depends on successful epigenetic reprogramming to a pluripotent state …

Ultra-low-input, tagmentation-based whole-genome bisulfite sequencing

A Adey, J Shendure - Genome research, 2012 - genome.cshlp.org
We have adapted transposase-based in vitro shotgun library construction (“tagmentation”)
for whole-genome bisulfite sequencing. This method, Tn5mC-seq, enables a> 100-fold …

Strategies for discovery and validation of methylated and hydroxymethylated DNA biomarkers

E Olkhov‐Mitsel, B Bapat - Cancer medicine, 2012 - Wiley Online Library
DNA methylation, consisting of the addition of a methyl group at the fifth‐position of cytosine
in a CpG dinucleotide, is one of the most well‐studied epigenetic mechanisms in mammals …