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Nature Reviews. Genetics

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https://www.readbyqxmd.com/read/30013225/concentrating-on-intrinsic-disorder
#1
Paulina Strzyz
No abstract text is available yet for this article.
July 16, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29995837/diagnosis-and-management-of-cornelia-de-lange-syndrome-first-international-consensus-statement
#2
REVIEW
Antonie D Kline, Joanna F Moss, Angelo Selicorni, Anne-Marie Bisgaard, Matthew A Deardorff, Peter M Gillett, Stacey L Ishman, Lynne M Kerr, Alex V Levin, Paul A Mulder, Feliciano J Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Antonella Costantino, Valerie Cormier-Daire, David FitzPatrick, Marco Grados, Laura Groves, Whitney Guthrie, Sylvia Huisman, Frank J Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P McCleery, Leonie A Menke, Amy Metrena, Julia O'Connor, Chris Oliver, Juan Pie, Sigrid Piening, Carol J Potter, Ana L Quaglio, Egbert Redeker, David Richman, Claudia Rigamonti, Angell Shi, Zeynep Tümer, Ingrid D C Van Balkom, Raoul C Hennekam
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide...
July 11, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29993033/the-genetics-of-loneliness
#3
Dorothy Clyde
No abstract text is available yet for this article.
July 11, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29973680/population-genomics-of-bacterial-host-adaptation
#4
REVIEW
Samuel K Sheppard, David S Guttman, J Ross Fitzgerald
Some bacteria can transfer to new host species, and this poses a risk to human health. Indeed, an estimated 60% of all human pathogens have originated from other animal species. Similarly, human-to-animal transitions are recognized as a major threat to sustainable livestock production, and emerging pathogens impose an increasing burden on crop yield and global food security. Recent advances in high-throughput sequencing technologies have enabled comparative genomic analyses of bacterial populations from multiple hosts...
July 4, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29967492/breakdancing-on-actin
#5
Paulina Strzyz
No abstract text is available yet for this article.
July 2, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29934629/prospecting-for-pluripotency
#6
Dorothy Clyde
No abstract text is available yet for this article.
June 22, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29925961/what-makes-us-human
#7
Linda Koch
No abstract text is available yet for this article.
June 20, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29921867/refining-the-splice-region
#8
Rebecca Furlong
No abstract text is available yet for this article.
June 19, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29907763/all-eyes-on-rapid-adaptive-evolution
#9
Linda Koch
No abstract text is available yet for this article.
June 15, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29884879/chromosome-interaction-hubs-around-nuclear-bodies
#10
Linda Koch
No abstract text is available yet for this article.
June 8, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29872216/using-genetic-data-to-strengthen-causal-inference-in-observational-research
#11
REVIEW
Jean-Baptiste Pingault, Paul F O'Reilly, Tabea Schoeler, George B Ploubidis, Frühling Rijsdijk, Frank Dudbridge
Causal inference is essential across the biomedical, behavioural and social sciences.By progressing from confounded statistical associations to evidence of causal relationships, causal inference can reveal complex pathways underlying traits and diseases and help to prioritize targets for intervention. Recent progress in genetic epidemiology - including statistical innovation, massive genotyped data sets and novel computational tools for deep data mining - has fostered the intense development of methods exploiting genetic data and relatedness to strengthen causal inference in observational research...
June 5, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29872215/the-rice-genome-revolution-from-an-ancient-grain-to-green-super-rice
#12
REVIEW
Rod A Wing, Michael D Purugganan, Qifa Zhang
Rice is a staple crop for half the world's population, which is expected to grow by 3 billion over the next 30 years. It is also a key model for studying the genomics of agroecosystems. This dual role places rice at the centre of an enormous challenge facing agriculture: how to leverage genomics to produce enough food to feed an expanding global population. Scientists worldwide are investigating the genetic variation among domesticated rice species and their wild relatives with the aim of identifying loci that can be exploited to breed a new generation of sustainable crops known as Green Super Rice...
June 5, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29844615/from-genome-wide-associations-to-candidate-causal-variants-by-statistical-fine-mapping
#13
REVIEW
Daniel J Schaid, Wenan Chen, Nicholas B Larson
Advancing from statistical associations of complex traits with genetic markers to understanding the functional genetic variants that influence traits is often a complex process. Fine-mapping can select and prioritize genetic variants for further study, yet the multitude of analytical strategies and study designs makes it challenging to choose an optimal approach. We review the strengths and weaknesses of different fine-mapping approaches, emphasizing the main factors that affect performance. Topics include interpreting results from genome-wide association studies (GWAS), the role of linkage disequilibrium, statistical fine-mapping approaches, trans-ethnic studies, genomic annotation and data integration, and other analysis and design issues...
May 29, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29795125/towards-a-complete-map-of-the-human-long-non-coding-rna-transcriptome
#14
REVIEW
Barbara Uszczynska-Ratajczak, Julien Lagarde, Adam Frankish, Roderic Guigó, Rory Johnson
Gene maps, or annotations, enable us to navigate the functional landscape of our genome. They are a resource upon which virtually all studies depend, from single-gene to genome-wide scales and from basic molecular biology to medical genetics. Yet present-day annotations suffer from trade-offs between quality and size, with serious but often unappreciated consequences for downstream studies. This is particularly true for long non-coding RNAs (lncRNAs), which are poorly characterized compared to protein-coding genes...
May 23, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29789686/the-personal-and-clinical-utility-of-polygenic-risk-scores
#15
REVIEW
Ali Torkamani, Nathan E Wineinger, Eric J Topol
Initial expectations for genome-wide association studies were high, as such studies promised to rapidly transform personalized medicine with individualized disease risk predictions, prevention strategies and treatments. Early findings, however, revealed a more complex genetic architecture than was anticipated for most common diseases - complexity that seemed to limit the immediate utility of these findings. As a result, the practice of utilizing the DNA of an individual to predict disease has been judged to provide little to no useful information...
May 22, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29765162/scrutinizing-spliceosomes
#16
Rebecca Furlong
No abstract text is available yet for this article.
May 15, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29748575/controlling-nuclear-rna-levels
#17
REVIEW
Manfred Schmid, Torben Heick Jensen
RNA turnover is an integral part of cellular RNA homeostasis and gene expression regulation. Whereas the cytoplasmic control of protein-coding mRNA is often the focus of study, we discuss here the less appreciated role of nuclear RNA decay systems in controlling RNA polymerase II (RNAPII)-derived transcripts. Historically, nuclear RNA degradation was found to be essential for the functionalization of transcripts through their proper maturation. Later, it was discovered to also be an important caretaker of nuclear hygiene by removing aberrant and unwanted transcripts...
May 10, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29743650/the-transition-to-modernity-and-chronic-disease-mismatch-and-natural-selection
#18
REVIEW
Stephen Corbett, Alexandre Courtiol, Virpi Lummaa, Jacob Moorad, Stephen Stearns
The Industrial Revolution and the accompanying nutritional, epidemiological and demographic transitions have profoundly changed human ecology and biology, leading to major shifts in life history traits, which include age and size at maturity, age-specific fertility and lifespan. Mismatch between past adaptations and the current environment means that gene variants linked to higher fitness in the past may now, through antagonistic pleiotropic effects, predispose post-transition populations to non-communicable diseases, such as Alzheimer disease, cancer and coronary artery disease...
May 9, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29692414/a-to-i-rna-editing-immune-protector-and-transcriptome-diversifier
#19
REVIEW
Eli Eisenberg, Erez Y Levanon
Modifications of RNA affect its function and stability. RNA editing is unique among these modifications because it not only alters the cellular fate of RNA molecules but also alters their sequence relative to the genome. The most common type of RNA editing is A-to-I editing by double-stranded RNA-specific adenosine deaminase (ADAR) enzymes. Recent transcriptomic studies have identified a number of 'recoding' sites at which A-to-I editing results in non-synonymous substitutions in protein-coding sequences. Many of these recoding sites are conserved within (but not usually across) lineages, are under positive selection and have functional and evolutionary importance...
April 24, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29795126/estimating-heritability-without-genetic-testing
#20
Linda Koch
No abstract text is available yet for this article.
July 2018: Nature Reviews. Genetics
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