Asymmetric subgenome selection and cis-regulatory divergence during cotton domestication
Nature Genetics 49, 579 (2017). doi:10.1038/ng.3807 Authors: Maojun Wang, Lili Tu, Min Lin, Zhongxu Lin, Pengcheng Wang, Qingyong Yang, Zhengxiu Ye, Chao Shen, Jianying Li, Lin Zhang, Xiaolin Zhou, Xinhui Nie, Zhonghua Li, Kai Guo, Yizan Ma, Cong Huang, Shuangxia Jin, Longfu Zhu, Xiyan Yang, Ling Min, Daojun Yuan, Qinghua Zhang, Keith Lindsey & Xianlong Zhang (Source: Nature Genetics)
Source: Nature Genetics - March 6, 2017 Category: Genetics & Stem Cells Authors: Maojun Wang Lili Tu Min Lin Zhongxu Lin Pengcheng Wang Qingyong Yang Zhengxiu Ye Chao Shen Jianying Li Lin Zhang Xiaolin Zhou Xinhui Nie Zhonghua Li Kai Guo Yizan Ma Cong Huang Shuangxia Jin Longfu Zhu Xiyan Yang Ling Min Daojun Yuan Qinghua Zhang Keith L Tags: Article Source Type: research

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Nature Genetics 49, 568 (2017). doi:10.1038/ng.3809 Authors: Tao Long, Michael Hicks, Hung-Chun Yu, William H Biggs, Ewen F Kirkness, Cristina Menni, Jonas Zierer, Kerrin S Small, Massimo Mangino, Helen Messier, Suzanne Brewerton, Yaron Turpaz, Brad A Perkins, Anne M Evans, Luke A D Miller, Lining Guo, C Thomas Caskey, Nicholas J Schork, Chad Garner, Tim D Spector, J Craig Venter & Amalio Telenti (Source: Nature Genetics)
Source: Nature Genetics - March 6, 2017 Category: Genetics & Stem Cells Authors: Tao Long Michael Hicks Hung-Chun Yu William H Biggs Ewen F Kirkness Cristina Menni Jonas Zierer Kerrin S Small Massimo Mangino Helen Messier Suzanne Brewerton Yaron Turpaz Brad A Perkins Anne M Evans Luke A D Miller Lining Guo C Thomas Caskey Nicholas J S Tags: Article Source Type: research

Biallelic mutations in human DCC cause developmental split-brain syndrome
Nature Genetics 49, 606 (2017). doi:10.1038/ng.3804 Authors: Saumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, Marie Drottar, Wai-Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N Lam, Mauricio R Delgado, Nancy J Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A Alorainy, Abdullah Abu Jamea, Khaled Abu-Amero, May Griebel, Wendy Ward, Ed S Lein, Kyriacos Markianos, A James Barkovich, Caroline D Robson, P Ellen Grant, Thomas M Bosley, Elizabeth C Engle, Christopher A Walsh & Timothy W Yu Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commis...
Source: Nature Genetics - February 27, 2017 Category: Genetics & Stem Cells Authors: Saumya S Jamuar Klaus Schmitz-Abe Alissa M D'Gama Marie Drottar Wai-Man Chan Maya Peeva Sarah Servattalab Anh-Thu N Lam Mauricio R Delgado Nancy J Clegg Zayed Al Zayed Mohammad Asif Dogar Ibrahim A Alorainy Abdullah Abu Jamea Khaled Abu-Amero May Griebel Tags: Letter Source Type: research

Diversity in non-repetitive human sequences not found in the reference genome
Nature Genetics 49, 588 (2017). doi:10.1038/ng.3801 Authors: Birte Kehr, Anna Helgadottir, Pall Melsted, Hakon Jonsson, Hannes Helgason, Adalbjörg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Arnaldur Gylfason, Gisli H Halldorsson, Snaedis Kristmundsdottir, Gudmundur Thorgeirsson, Isleifur Olafsson, Hilma Holm, Unnur Thorsteinsdottir, Patrick Sulem, Agnar Helgason, Daniel F Gudbjartsson, Bjarni V Halldorsson & Kari Stefansson Genomes usually contain some non-repetitive sequences that are missing from the reference genome and occur only in a population subset. Such non-repetitive, non-reference (NRNR...
Source: Nature Genetics - February 27, 2017 Category: Genetics & Stem Cells Authors: Birte Kehr Anna Helgadottir Pall Melsted Hakon Jonsson Hannes Helgason Adalbj örg Jonasdottir Aslaug Jonasdottir Asgeir Sigurdsson Arnaldur Gylfason Gisli H Halldorsson Snaedis Kristmundsdottir Gudmundur Thorgeirsson Isleifur Olafsson Hilma Holm Unnur Th Tags: Letter Source Type: research

Genome-wide analyses identify common variants associated with macular telangiectasia type 2
Nature Genetics 49, 559 (2017). doi:10.1038/ng.3799 Authors: Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Lisa Baird, Lea Scheppke, Roberto Bonelli, Lawrence A Yannuzzi, Martin Friedlander, Catherine A Egan, Marcus Fruttiger, Mark Leppert, Rando Allikmets & Melanie Bahlo (Source: Nature Genetics)
Source: Nature Genetics - February 27, 2017 Category: Genetics & Stem Cells Authors: Thomas S Scerri Anna Quaglieri Carolyn Cai Jana Zernant Nori Matsunami Lisa Baird Lea Scheppke Roberto Bonelli Lawrence A Yannuzzi Martin Friedlander Catherine A Egan Marcus Fruttiger Mark Leppert Rando Allikmets Melanie Bahlo Tags: Article Source Type: research

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Nature Genetics 49, 511 (2017). doi:10.1038/ng.3794 Authors: Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E M ...
Source: Nature Genetics - February 27, 2017 Category: Genetics & Stem Cells Authors: Ashley P L Marsh Delphine Heron Timothy J Edwards Ang élique Quartier Charles Galea Caroline Nava Agn ès Rastetter Marie-Laure Moutard Vicki Anderson Pierre Bitoun Jens Bunt Anne Faudet Catherine Garel Greta Gillies Ilan Gobius Justine Guegan Solveig He Tags: Brief Communication Source Type: research

Accounting for genetic interactions improves modeling of individual quantitative trait phenotypes in yeast
Nature Genetics 49, 497 (2017). doi:10.1038/ng.3800 Authors: Simon K G Forsberg, Joshua S Bloom, Meru J Sadhu, Leonid Kruglyak & Örjan Carlborg (Source: Nature Genetics)
Source: Nature Genetics - February 27, 2017 Category: Genetics & Stem Cells Authors: Simon K G Forsberg Joshua S Bloom Meru J Sadhu Leonid Kruglyak Örjan Carlborg Tags: Analysis Source Type: research

Untangling the genetics from the epigenetics in pancreatic cancer metastasis
Nature Genetics 49, 323 (2017). doi:10.1038/ng.3798 Authors: Christopher R Vakoc & David A Tuveson Comparative genomic analyses of primary tumors and metastases within individuals with pancreatic cancer have exposed the complex clonal dynamics that underlie the dissemination of cancer cells to distant sites. Recent studies implicate non-genetic mechanisms in this process, particularly fluctuations in chromatin states and metabolism, which can endow rare cells within a primary tumor with metastatic potential. (Source: Nature Genetics)
Source: Nature Genetics - February 23, 2017 Category: Genetics & Stem Cells Authors: Christopher R Vakoc David A Tuveson Tags: News and Views Source Type: research

Convergence and divergence in sex-chromosome evolution
Nature Genetics 49, 321 (2017). doi:10.1038/ng.3797 Author: Catherine L Peichel A sequence assembly of the chicken W chromosome enables reconstruction of the gene content of the W chromosome across 14 bird species and shows striking similarities in the maintenance of broadly expressed and dosage-sensitive genes on highly degenerate sex chromosomes in both birds and mammals. However, the chicken W chromosome is not enriched for genes with expression in female-specific tissues, providing an intriguing contrast to the acquisition and amplification of genes with testis-specific expression on mammalian Y chromosomes and...
Source: Nature Genetics - February 23, 2017 Category: Genetics & Stem Cells Authors: Catherine L Peichel Tags: News and Views Source Type: research

The road to precision oncology
Nature Genetics 49, 320 (2017). doi:10.1038/ng.3796 Author: Andrew V Biankin The ultimate goal of precision medicine is to use population-based molecular, clinical and other data to make individually tailored clinical decisions for patients, although the path to achieving this goal is not entirely clear. A new study shows how knowledge banks of patient data can be used to make individual treatment decisions in acute myeloid leukemia. (Source: Nature Genetics)
Source: Nature Genetics - February 23, 2017 Category: Genetics & Stem Cells Authors: Andrew V Biankin Tags: News and Views Source Type: research

The creativity of immigrants
Nature Genetics 49, 319 (2017). doi:10.1038/ng.3814 (Source: Nature Genetics)
Source: Nature Genetics - February 23, 2017 Category: Genetics & Stem Cells Tags: Editorial Source Type: research

Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci
Nature Genetics 49, 625 (2017). doi:10.1038/ng.3793 Authors: Matthew C Canver, Samuel Lessard, Luca Pinello, Yuxuan Wu, Yann Ilboudo, Emily N Stern, Austen J Needleman, Frédéric Galactéros, Carlo Brugnara, Abdullah Kutlar, Colin McKenzie, Marvin Reid, Diane D Chen, Partha Pratim Das, Mitchel A Cole, Jing Zeng, Ryo Kurita, Yukio Nakamura, Guo-Cheng Yuan, Guillaume Lettre, Daniel E Bauer & Stuart H Orkin (Source: Nature Genetics)
Source: Nature Genetics - February 20, 2017 Category: Genetics & Stem Cells Authors: Matthew C Canver Samuel Lessard Luca Pinello Yuxuan Wu Yann Ilboudo Emily N Stern Austen J Needleman Fr édéric Galactéros Carlo Brugnara Abdullah Kutlar Colin McKenzie Marvin Reid Diane D Chen Partha Pratim Das Mitchel A Cole Jing Zeng Ryo Kurita Yukio Tags: Technical Report Source Type: research

Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types
Nature Genetics 49, 600 (2017). doi:10.1038/ng.3795 Authors: Sung Chun, Alexandra Casparino, Nikolaos A Patsopoulos, Damien C Croteau-Chonka, Benjamin A Raby, Philip L De Jager, Shamil R Sunyaev & Chris Cotsapas Most autoimmune-disease-risk effects identified by genome-wide association studies (GWAS) localize to open chromatin with gene-regulatory activity. GWAS loci are also enriched in expression quantitative trait loci (eQTLs), thus suggesting that most risk variants alter gene expression. However, because causal variants are difficult to identify, and cis-eQTLs occur frequently, it remains challenging to id...
Source: Nature Genetics - February 20, 2017 Category: Genetics & Stem Cells Authors: Sung Chun Alexandra Casparino Nikolaos A Patsopoulos Damien C Croteau-Chonka Benjamin A Raby Philip L De Jager Shamil R Sunyaev Chris Cotsapas Tags: Letter Source Type: research

Promoter shape varies across populations and affects promoter evolution and expression noise
Nature Genetics 49, 550 (2017). doi:10.1038/ng.3791 Authors: Ignacio E Schor, Jacob F Degner, Dermot Harnett, Enrico Cannavò, Francesco P Casale, Heejung Shim, David A Garfield, Ewan Birney, Matthew Stephens, Oliver Stegle & Eileen E M Furlong (Source: Nature Genetics)
Source: Nature Genetics - February 13, 2017 Category: Genetics & Stem Cells Authors: Ignacio E Schor Jacob F Degner Dermot Harnett Enrico Cannav ò Francesco P Casale Heejung Shim David A Garfield Ewan Birney Matthew Stephens Oliver Stegle Eileen E M Furlong Tags: Article Source Type: research

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
Nature Genetics 49, 537 (2017). doi:10.1038/ng.3790 Authors: John J Reynolds, Louise S Bicknell, Paula Carroll, Martin R Higgs, Ranad Shaheen, Jennie E Murray, Dimitrios K Papadopoulos, Andrea Leitch, Olga Murina, Žygimantė Tarnauskaitė, Sarah R Wessel, Anastasia Zlatanou, Audrey Vernet, Alex von Kriegsheim, Rachel M A Mottram, Clare V Logan, Hannah Bye, Yun Li, Alexander Brean, Sateesh Maddirevula, Rachel C Challis, Kassiani Skouloudaki, Agaadir Almoisheer, Hessa S Alsaif, Ariella Amar, Natalie J Prescott, Michael B Bober, Angela Duker, Eissa Faqeih, Mohammed Zain Seidahmed, Saeed Al Tala, Abdulrahm...
Source: Nature Genetics - February 13, 2017 Category: Genetics & Stem Cells Authors: John J Reynolds Louise S Bicknell Paula Carroll Martin R Higgs Ranad Shaheen Jennie E Murray Dimitrios K Papadopoulos Andrea Leitch Olga Murina Žygimantė Tarnauskaitė Sarah R Wessel Anastasia Zlatanou Audrey Vernet Alex von Kriegsheim Rachel M A Mottra Tags: Article Source Type: research