Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Nature Genetics 49, 515 (2017).
doi:10.1038/ng.3792
Authors: Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stef...
Source: Nature Genetics - February 13, 2017 Category: Genetics & Stem Cells Authors: Holly A F Stessman Bo Xiong Bradley P Coe Tianyun Wang Kendra Hoekzema Michaela Fenckova Malin Kvarnung Jennifer Gerdts Sandy Trinh Nele Cosemans Laura Vives Janice Lin Tychele N Turner Gijs Santen Claudia Ruivenkamp Marjolein Kriek Arie van Haeringen Emm Tags: Article Source Type: research
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Nature Genetics 49, 504 (2017).
doi:10.1038/ng.3789
Authors: Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder, Joseph D Buxbaum, Benjamin M Neale, Daniel G MacArthur, Dennis P Wall, Elise B Robinson & Mark J Daly (Source: Nature Genetics)
Source: Nature Genetics - February 13, 2017 Category: Genetics & Stem Cells Authors: Jack A Kosmicki Kaitlin E Samocha Daniel P Howrigan Stephan J Sanders Kamil Slowikowski Monkol Lek Konrad J Karczewski David J Cutler Bernie Devlin Kathryn Roeder Joseph D Buxbaum Benjamin M Neale Daniel G MacArthur Dennis P Wall Elise B Robinson Mark J D Tags: Analysis Source Type: research
Divergent effects of intrinsically active MEK variants on developmental Ras signaling
Nature Genetics 49, 465 (2017).
doi:10.1038/ng.3780
Authors: Yogesh Goyal, Granton A Jindal, José L Pelliccia, Kei Yamaya, Eyan Yeung, Alan S Futran, Rebecca D Burdine, Trudi Schüpbach & Stanislav Y Shvartsman
Germline mutations in Ras pathway components are associated with a large class of human developmental abnormalities, known as RASopathies, that are characterized by a range of structural and functional phenotypes, including cardiac defects and neurocognitive delays. Although it is generally believed that RASopathies are caused by altered levels of pathway activation, the signaling changes in dev...
Source: Nature Genetics - February 5, 2017 Category: Genetics & Stem Cells Authors: Yogesh Goyal Granton A Jindal Jos é L Pelliccia Kei Yamaya Eyan Yeung Alan S Futran Rebecca D Burdine Trudi Sch üpbach Stanislav Y Shvartsman Tags: Letter Source Type: research
Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mongolian yaks
Nature Genetics 49, 470 (2017).
doi:10.1038/ng.3775
Authors: Ivica Medugorac, Alexander Graf, Cécile Grohs, Sophie Rothammer, Yondon Zagdsuren, Elena Gladyr, Natalia Zinovieva, Johanna Barbieri, Doris Seichter, Ingolf Russ, André Eggen, Garrett Hellenthal, Gottfried Brem, Helmut Blum, Stefan Krebs & Aurélien Capitan
The yak is remarkable for its adaptation to high altitude and occupies a central place in the economies of the mountainous regions of Asia. At lower elevations, it is common to hybridize yaks with cattle to combine the yak's hardiness with the productivity of cattle. Hybrid males are ...
Source: Nature Genetics - January 29, 2017 Category: Genetics & Stem Cells Authors: Ivica Medugorac Alexander Graf C écile Grohs Sophie Rothammer Yondon Zagdsuren Elena Gladyr Natalia Zinovieva Johanna Barbieri Doris Seichter Ingolf Russ Andr é Eggen Garrett Hellenthal Gottfried Brem Helmut Blum Stefan Krebs Aur élien Capitan Tags: Letter Source Type: research
Avian W and mammalian Y chromosomes convergently retained dosage-sensitive regulators
Nature Genetics 49, 387 (2017).
doi:10.1038/ng.3778
Authors: Daniel W Bellott, Helen Skaletsky, Ting-Jan Cho, Laura Brown, Devin Locke, Nancy Chen, Svetlana Galkina, Tatyana Pyntikova, Natalia Koutseva, Tina Graves, Colin Kremitzki, Wesley C Warren, Andrew G Clark, Elena Gaginskaya, Richard K Wilson & David C Page (Source: Nature Genetics)
Source: Nature Genetics - January 29, 2017 Category: Genetics & Stem Cells Authors: Daniel W Bellott Helen Skaletsky Ting-Jan Cho Laura Brown Devin Locke Nancy Chen Svetlana Galkina Tatyana Pyntikova Natalia Koutseva Tina Graves Colin Kremitzki Wesley C Warren Andrew G Clark Elena Gaginskaya Richard K Wilson David C Page Tags: Article Source Type: research
Systematic analysis of telomere length and somatic alterations in 31 cancer types
Nature Genetics 49, 349 (2017).
doi:10.1038/ng.3781
Authors: Floris P Barthel, Wei Wei, Ming Tang, Emmanuel Martinez-Ledesma, Xin Hu, Samirkumar B Amin, Kadir C Akdemir, Sahil Seth, Xingzhi Song, Qianghu Wang, Tara Lichtenberg, Jian Hu, Jianhua Zhang, Siyuan Zheng & Roel G W Verhaak (Source: Nature Genetics)
Source: Nature Genetics - January 29, 2017 Category: Genetics & Stem Cells Authors: Floris P Barthel Wei Wei Ming Tang Emmanuel Martinez-Ledesma Xin Hu Samirkumar B Amin Kadir C Akdemir Sahil Seth Xingzhi Song Qianghu Wang Tara Lichtenberg Jian Hu Jianhua Zhang Siyuan Zheng Roel G W Verhaak Tags: Analysis Source Type: research
SWI/SNF complex in cancer
Nature Genetics 49, 178 (2017).
doi:10.1038/ng.3779
Authors: Chao Lu & C David Allis
Four studies in this issue report new mechanisms underlying the function of the chromatin remodeling SWI/SNF complex in controlling gene expression and suppressing tumor development, providing valuable insights into the treatment of cancers harboring mutations in genes encoding SWI/SNF complex subunits. (Source: Nature Genetics)
Source: Nature Genetics - January 29, 2017 Category: Genetics & Stem Cells Authors: Chao Lu C David Allis Tags: News and Views Source Type: research
Many faces of SMCHD1
Nature Genetics 49, 176 (2017).
doi:10.1038/ng.3776
Author: Andrew O M Wilkie
The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions. (Source: Nature Genetics)
Source: Nature Genetics - January 29, 2017 Category: Genetics & Stem Cells Authors: Andrew O M Wilkie Tags: News and Views Source Type: research
Finding host targets for HIV therapy
Nature Genetics 49, 175 (2017).
doi:10.1038/ng.3777
Authors: C Kimberly Tsui, Amita Gupta & Michael C Bassik
A CRISPR screen conducted in a CD4+ T cell leukemia line has identified host factors required for HIV infection but dispensable for cellular survival. The results highlight sulfation on the HIV co-receptor CCR5 and cellular aggregation as potential targets for therapeutic intervention. (Source: Nature Genetics)
Source: Nature Genetics - January 29, 2017 Category: Genetics & Stem Cells Authors: C Kimberly Tsui Amita Gupta Michael C Bassik Tags: News and Views Source Type: research
It's all druggable
Nature Genetics 49, 169 (2017).
doi:10.1038/ng.3788 (Source: Nature Genetics)
Source: Nature Genetics - January 29, 2017 Category: Genetics & Stem Cells Tags: Editorial Source Type: research
Landscape of monoallelic DNA accessibility in mouse embryonic stem cells and neural progenitor cells
Nature Genetics 49, 377 (2017).
doi:10.1038/ng.3769
Authors: Jin Xu, Ava C Carter, Anne-Valerie Gendrel, Mikael Attia, Joshua Loftus, William J Greenleaf, Robert Tibshirani, Edith Heard & Howard Y Chang (Source: Nature Genetics)
Source: Nature Genetics - January 22, 2017 Category: Genetics & Stem Cells Authors: Jin Xu Ava C Carter Anne-Valerie Gendrel Mikael Attia Joshua Loftus William J Greenleaf Robert Tibshirani Edith Heard Howard Y Chang Tags: Article Source Type: research
Precision oncology for acute myeloid leukemia using a knowledge bank approach
Nature Genetics 49, 332 (2017).
doi:10.1038/ng.3756
Authors: Moritz Gerstung, Elli Papaemmanuil, Inigo Martincorena, Lars Bullinger, Verena I Gaidzik, Peter Paschka, Michael Heuser, Felicitas Thol, Niccolo Bolli, Peter Ganly, Arnold Ganser, Ultan McDermott, Konstanze Döhner, Richard F Schlenk, Hartmut Döhner & Peter J Campbell (Source: Nature Genetics)
Source: Nature Genetics - January 15, 2017 Category: Genetics & Stem Cells Authors: Moritz Gerstung Elli Papaemmanuil Inigo Martincorena Lars Bullinger Verena I Gaidzik Peter Paschka Michael Heuser Felicitas Thol Niccolo Bolli Peter Ganly Arnold Ganser Ultan McDermott Konstanze D öhner Richard F Schlenk Hartmut D öhner Peter J Campbell Tags: Analysis Source Type: research
Case –control association mapping by proxy using family history of disease
Nature Genetics 49, 325 (2017).
doi:10.1038/ng.3766
Authors: Jimmy Z Liu, Yaniv Erlich & Joseph K Pickrell (Source: Nature Genetics)
Source: Nature Genetics - January 15, 2017 Category: Genetics & Stem Cells Authors: Jimmy Z Liu Yaniv Erlich Joseph K Pickrell Tags: Analysis Source Type: research
Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease
Nature Genetics 49, 262 (2017).
doi:10.1038/ng.3755
Authors: James C Lee, Daniele Biasci, Rebecca Roberts, Richard B Gearry, John C Mansfield, Tariq Ahmad, Natalie J Prescott, Jack Satsangi, David C Wilson, Luke Jostins, Carl A Anderson, James A Traherne, Paul A Lyons, Miles Parkes & Kenneth G C Smith
For most immune-mediated diseases, the main determinant of patient well-being is not the diagnosis itself but instead the course that the disease takes over time (prognosis). Prognosis may vary substantially between patients for reasons that are poorly understood. Familial studies support a genetic contribution to...
Source: Nature Genetics - January 8, 2017 Category: Genetics & Stem Cells Authors: James C Lee Daniele Biasci Rebecca Roberts Richard B Gearry John C Mansfield Tariq Ahmad Natalie J Prescott Jack Satsangi David C Wilson Luke Jostins Carl A Anderson James A Traherne Paul A Lyons Miles Parkes Kenneth G C Smith Tags: Letter Source Type: research
How hormones regulate floral architecture in barley
Nature Genetics 49, 8 (2017).
doi:10.1038/ng.3750
Author: Scott A Boden
A defining characteristic of grasses, including major cereal crops, is the way in which flowers are arranged on an inflorescence. A new study finds that regulation of hormone levels during development is crucial for determining the arrangement of flowers on a barley inflorescence, opening new doors for increasing grain yield. (Source: Nature Genetics)
Source: Nature Genetics - December 27, 2016 Category: Genetics & Stem Cells Authors: Scott A Boden Tags: News and Views Source Type: research
