An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death
Nature Genetics 49, 97 (2017). doi:10.1038/ng.3723 Authors: Alessandra Granata, Felipe Serrano, William George Bernard, Madeline McNamara, Lucinda Low, Priya Sastry & Sanjay Sinha (Source: Nature Genetics)
Source: Nature Genetics - November 27, 2016 Category: Genetics & Stem Cells Authors: Alessandra Granata Felipe Serrano William George Bernard Madeline McNamara Lucinda Low Priya Sastry Sanjay Sinha Tags: Article Source Type: research

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Nature Genetics 49, 27 (2017). doi:10.1038/ng.3725 Authors: (Source: Nature Genetics)
Source: Nature Genetics - November 20, 2016 Category: Genetics & Stem Cells Tags: Article Source Type: research

Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias
Nature Genetics 49, 10 (2017). doi:10.1038/ng.3726 Authors: Andrew Dunford, David M Weinstock, Virginia Savova, Steven E Schumacher, John P Cleary, Akinori Yoda, Timothy J Sullivan, Julian M Hess, Alexander A Gimelbrant, Rameen Beroukhim, Michael S Lawrence, Gad Getz & Andrew A Lane (Source: Nature Genetics)
Source: Nature Genetics - November 20, 2016 Category: Genetics & Stem Cells Authors: Andrew Dunford David M Weinstock Virginia Savova Steven E Schumacher John P Cleary Akinori Yoda Timothy J Sullivan Julian M Hess Alexander A Gimelbrant Rameen Beroukhim Michael S Lawrence Gad Getz Andrew A Lane Tags: Analysis Source Type: research

VRS2 regulates hormone-mediated inflorescence patterning in barley
Nature Genetics 49, 157 (2017). doi:10.1038/ng.3717 Authors: Helmy M Youssef, Kai Eggert, Ravi Koppolu, Ahmad M Alqudah, Naser Poursarebani, Arash Fazeli, Shun Sakuma, Akemi Tagiri, Twan Rutten, Geetha Govind, Udda Lundqvist, Andreas Graner, Takao Komatsuda, Nese Sreenivasulu & Thorsten Schnurbusch Plant architecture has clear agronomic and economic implications for crops such as wheat and barley, as it is a critical factor for determining grain yield. Despite this, only limited molecular information is available about how grain-bearing inflorescences, called spikes, are formed and maintain their regular, disti...
Source: Nature Genetics - November 13, 2016 Category: Genetics & Stem Cells Authors: Helmy M Youssef Kai Eggert Ravi Koppolu Ahmad M Alqudah Naser Poursarebani Arash Fazeli Shun Sakuma Akemi Tagiri Twan Rutten Geetha Govind Udda Lundqvist Andreas Graner Takao Komatsuda Nese Sreenivasulu Thorsten Schnurbusch Tags: Letter Source Type: research

Transient transcription in the early embryo sets an epigenetic state that programs postnatal growth
Nature Genetics 49, 110 (2017). doi:10.1038/ng.3718 Authors: Maxim V C Greenberg, Juliane Glaser, Máté Borsos, Fatima El Marjou, Marius Walter, Aurélie Teissandier & Déborah Bourc'his (Source: Nature Genetics)
Source: Nature Genetics - November 13, 2016 Category: Genetics & Stem Cells Authors: Maxim V C Greenberg Juliane Glaser M áté Borsos Fatima El Marjou Marius Walter Aur élie Teissandier D éborah Bourc'his Tags: Article Source Type: research

Qki deficiency maintains stemness of glioma stem cells in suboptimal environment by downregulating endolysosomal degradation
Nature Genetics 49, 75 (2017). doi:10.1038/ng.3711 Authors: Takashi Shingu, Allen L Ho, Liang Yuan, Xin Zhou, Congxin Dai, Siyuan Zheng, Qianghu Wang, Yi Zhong, Qing Chang, James W Horner, Brandon D Liebelt, Yu Yao, Baoli Hu, Yiwen Chen, Gregory N Fuller, Roeland G W Verhaak, Amy B Heimberger & Jian Hu (Source: Nature Genetics)
Source: Nature Genetics - November 13, 2016 Category: Genetics & Stem Cells Authors: Takashi Shingu Allen L Ho Liang Yuan Xin Zhou Congxin Dai Siyuan Zheng Qianghu Wang Yi Zhong Qing Chang James W Horner Brandon D Liebelt Yu Yao Baoli Hu Yiwen Chen Gregory N Fuller Roeland G W Verhaak Amy B Heimberger Jian Hu Tags: Article Source Type: research

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation
Nature Genetics 49, 54 (2017). doi:10.1038/ng.3715 Authors: Thomas J Hoffmann, Georg B Ehret, Priyanka Nandakumar, Dilrini Ranatunga, Catherine Schaefer, Pui-Yan Kwok, Carlos Iribarren, Aravinda Chakravarti & Neil Risch (Source: Nature Genetics)
Source: Nature Genetics - November 13, 2016 Category: Genetics & Stem Cells Authors: Thomas J Hoffmann Georg B Ehret Priyanka Nandakumar Dilrini Ranatunga Catherine Schaefer Pui-Yan Kwok Carlos Iribarren Aravinda Chakravarti Neil Risch Tags: Article Source Type: research

Scaling probabilistic models of genetic variation to millions of humans
Nature Genetics 48, 1587 (2016). doi:10.1038/ng.3710 Authors: Prem Gopalan, Wei Hao, David M Blei & John D Storey (Source: Nature Genetics)
Source: Nature Genetics - November 6, 2016 Category: Genetics & Stem Cells Authors: Prem Gopalan Wei Hao David M Blei John D Storey Tags: Technical Report Source Type: research

A cis cold memory element and a trans epigenome reader mediate Polycomb silencing of FLC by vernalization in Arabidopsis
Nature Genetics 48, 1527 (2016). doi:10.1038/ng.3712 Authors: Wenya Yuan, Xiao Luo, Zicong Li, Wannian Yang, Yizhong Wang, Rui Liu, Jiamu Du & Yuehui He (Source: Nature Genetics)
Source: Nature Genetics - November 6, 2016 Category: Genetics & Stem Cells Authors: Wenya Yuan Xiao Luo Zicong Li Wannian Yang Yizhong Wang Rui Liu Jiamu Du Yuehui He Tags: Article Source Type: research

Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality
Nature Genetics 48, 1557 (2016). doi:10.1038/ng.3708 Authors: Ruben N Eppinga, Yanick Hagemeijer, Stephen Burgess, David A Hinds, Kari Stefansson, Daniel F Gudbjartsson, Dirk J van Veldhuisen, Patricia B Munroe, Niek Verweij & Pim van der Harst Resting heart rate is a heritable trait correlated with life span. Little is known about the genetic contribution to resting heart rate and its relationship with mortality. We performed a genome-wide association discovery and replication analysis starting with 19.9 million genetic variants and studying up to 265,046 individuals to identify 64 loci associated with resting...
Source: Nature Genetics - October 30, 2016 Category: Genetics & Stem Cells Authors: Ruben N Eppinga Yanick Hagemeijer Stephen Burgess David A Hinds Kari Stefansson Daniel F Gudbjartsson Dirk J van Veldhuisen Patricia B Munroe Niek Verweij Pim van der Harst Tags: Letter Source Type: research

The gut microbiome —an emerging complex trait
Nature Genetics 48, 1301 (2016). doi:10.1038/ng.3707 Author: Andrew K Benson As the first series of genetic analyses of gut microbiome composition in humans is now emerging, the results should be met with enthusiasm, but also with caution. Findings from the initial offerings demonstrate how population-scale approaches can provide deeper insights into host–microbiome interactions while at the same time illustrating that our understanding of the architecture of highly complex microbiome 'traits' is still rudimentary. (Source: Nature Genetics)
Source: Nature Genetics - October 26, 2016 Category: Genetics & Stem Cells Authors: Andrew K Benson Tags: News and Views Source Type: research

Dangerous R loops form in the absence of H3K9 methylation
Nature Genetics 48, 1299 (2016). doi:10.1038/ng.3705 Author: Anna Elisabetta Salcini Methylation of histone H3 on lysine 9 (H3K9) is a hallmark of transcriptionally inactive heterochromatin that is deregulated in pathological conditions. A new study shows that complete loss of H3K9 methylation in Caenorhabditis elegans leads to derepression of repetitive elements and formation of DNA:RNA hybrids (R loops), resulting in increased rates of repeat-specific mutation. (Source: Nature Genetics)
Source: Nature Genetics - October 26, 2016 Category: Genetics & Stem Cells Authors: Anna Elisabetta Salcini Tags: News and Views Source Type: research

p53 partners with RNA in the DNA damage response
Nature Genetics 48, 1298 (2016). doi:10.1038/ng.3702 Author: Maite Huarte Stabilization of p53 protein is a key step in the cellular response to DNA damage. A new study describes a long noncoding RNA, DINO, transcribed from the CDKN1A promoter region that induces stabilization of p53 protein and promotes efficient activation of p53 target genes in response to DNA damage. (Source: Nature Genetics)
Source: Nature Genetics - October 26, 2016 Category: Genetics & Stem Cells Authors: Maite Huarte Tags: News and Views Source Type: research

Genome variation for non-geneticists
Nature Genetics 48, 1297 (2016). doi:10.1038/ng.3716 Single-nucleotide variation (SNPs or SNVs) in the human genome is now being used by the public and by researchers interested in the functional mechanisms of genetic perturbation for the 3D structure and function of the nucleus in various cells and tissues, and for understanding human–microbiota interactions. We have some requests for authors that may help prevent misunderstanding as familiar genetic markers acquire new users. (Source: Nature Genetics)
Source: Nature Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Editorial Source Type: research

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Nature Genetics 48, 1581 (2016). doi:10.1038/ng.3703 Authors: Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, Harendra Guturu, Peter D Stenson, David N Cooper, Jonathan A Bernstein & Gill Bejerano (Source: Nature Genetics)
Source: Nature Genetics - October 23, 2016 Category: Genetics & Stem Cells Authors: Karthik A Jagadeesh Aaron M Wenger Mark J Berger Harendra Guturu Peter D Stenson David N Cooper Jonathan A Bernstein Gill Bejerano Tags: Technical Report Source Type: research