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Nature Reviews. Genetics

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https://www.readbyqxmd.com/read/29335644/runs-of-homozygosity-windows-into-population-history-and-trait-architecture
#1
REVIEW
Francisco C Ceballos, Peter K Joshi, David W Clark, Michèle Ramsay, James F Wilson
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history, while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and their application to the understanding of inbreeding depression and disease risk...
January 15, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29335645/the-new-genetics-of-intelligence
#2
REVIEW
Robert Plomin, Sophie von Stumm
Intelligence - the ability to learn, reason and solve problems - is at the forefront of behavioural genetic research. Intelligence is highly heritable and predicts important educational, occupational and health outcomes better than any other trait. Recent genome-wide association studies have successfully identified inherited genome sequence differences that account for 20% of the 50% heritability of intelligence. These findings open new avenues for research into the causes and consequences of intelligence using genome-wide polygenic scores that aggregate the effects of thousands of genetic variants...
January 8, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29279607/technique-single-cell-transcriptomes-in-space
#3
Linda Koch
No abstract text is available yet for this article.
December 27, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29279606/nuclear-receptors-in-cancer-uncovering-new-and-evolving-roles-through-genomic-analysis
#4
REVIEW
Vineet K Dhiman, Michael J Bolt, Kevin P White
Nuclear receptors (NRs) have historically been at the forefront of cancer research, where they are known to act as critical regulators of disease. They also serve as biomarkers for tumour subclassification and targets for hormone therapy. However, most tumour types express extensive repertoires of NRs, whose interactions provide multiple paths for disease progression and offer potentially untapped mechanisms for therapeutic interventions. Recently, next-generation sequencing technologies have provided genome-wide insights into the complex interplay of NR transcriptional networks and their contribution to the development and progression of cancer...
December 27, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29279605/cancer-transcriptome-profiling-at-the-juncture-of-clinical-translation
#5
REVIEW
Marcin Cieślik, Arul M Chinnaiyan
Methodological breakthroughs over the past four decades have repeatedly revolutionized transcriptome profiling. Using RNA sequencing (RNA-seq), it has now become possible to sequence and quantify the transcriptional outputs of individual cells or thousands of samples. These transcriptomes provide a link between cellular phenotypes and their molecular underpinnings, such as mutations. In the context of cancer, this link represents an opportunity to dissect the complexity and heterogeneity of tumours and to discover new biomarkers or therapeutic strategies...
December 27, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29249815/translational-genetics-crispr-therapies-making-the-grade-not-the-cut
#6
Darren J Burgess
No abstract text is available yet for this article.
December 18, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29249814/splicing-going-in-circles
#7
Eytan Zlotorynski
No abstract text is available yet for this article.
December 18, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29225335/genetic-architecture-the-shape-of-the-genetic-contribution-to-human-traits-and-disease
#8
REVIEW
Nicholas J Timpson, Celia M T Greenwood, Nicole Soranzo, Daniel J Lawson, J Brent Richards
Genetic architecture describes the characteristics of genetic variation that are responsible for heritable phenotypic variability. It depends on the number of genetic variants affecting a trait, their frequencies in the population, the magnitude of their effects and their interactions with each other and the environment. Defining the genetic architecture of a complex trait or disease is central to the scientific and clinical goals of human genetics, which are to understand disease aetiology and aid in disease screening, diagnosis, prognosis and therapy...
December 11, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29225334/a-change-of-view-homologous-recombination-at-single-molecule-resolution
#9
REVIEW
Kyle Kaniecki, Luisina De Tullio, Eric C Greene
Genetic recombination occurs in all organisms and is vital for genome stability. Indeed, in humans, aberrant recombination can lead to diseases such as cancer. Our understanding of homologous recombination is built upon more than a century of scientific inquiry, but achieving a more complete picture using ensemble biochemical and genetic approaches is hampered by population heterogeneity and transient recombination intermediates. Recent advances in single-molecule and super-resolution microscopy methods help to overcome these limitations and have led to new and refined insights into recombination mechanisms, including a detailed understanding of DNA helicase function and synaptonemal complex structure...
December 11, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29225333/technique-a-miniature-living-recording-device
#10
Liesbet Lieben
No abstract text is available yet for this article.
December 11, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29199283/am-i-ready-for-crispr-a-user-s-guide-to-genetic-screens
#11
REVIEW
John G Doench
Exciting new technologies are often self-limiting in their rollout, as access to state-of-the-art instrumentation or the need for years of hands-on experience, for better or worse, ensures slow adoption by the community. CRISPR technology, however, presents the opposite dilemma, where the simplicity of the system enabled the parallel development of many applications, improvements and derivatives, and new users are now presented with an almost paralyzing abundance of choices. This Review intends to guide users through the process of applying CRISPR technology to their biological problems of interest, especially in the context of discovering gene function at scale...
December 4, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29176606/synthetic-biology-multiplex-genome-engineering-in-eukaryotes
#12
Katharine H Wrighton
No abstract text is available yet for this article.
November 27, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29151589/transcription-shedding-light-on-alternative-promoter-selection
#13
Katharine H Wrighton
No abstract text is available yet for this article.
November 20, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29151588/prioritizing-diversity-in-human-genomics-research
#14
REVIEW
Lucia A Hindorff, Vence L Bonham, Lawrence C Brody, Margaret E C Ginoza, Carolyn M Hutter, Teri A Manolio, Eric D Green
Recent studies have highlighted the imperatives of including diverse and under-represented individuals in human genomics research and the striking gaps in attaining that inclusion. With its multidecade experience in supporting research and policy efforts in human genomics, the National Human Genome Research Institute is committed to establishing foundational approaches to study the role of genomic variation in health and disease that include diverse populations. Large-scale efforts to understand biology and health have yielded key scientific findings, lessons and recommendations on how to increase diversity in genomic research studies and the genomic research workforce...
November 20, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29129922/statistical-and-integrative-system-level-analysis-of-dna-methylation-data
#15
REVIEW
Andrew E Teschendorff, Caroline L Relton
Epigenetics plays a key role in cellular development and function. Alterations to the epigenome are thought to capture and mediate the effects of genetic and environmental risk factors on complex disease. Currently, DNA methylation is the only epigenetic mark that can be measured reliably and genome-wide in large numbers of samples. This Review discusses some of the key statistical challenges and algorithms associated with drawing inferences from DNA methylation data, including cell-type heterogeneity, feature selection, reverse causation and system-level analyses that require integration with other data types such as gene expression, genotype, transcription factor binding and other epigenetic information...
November 13, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29129921/towards-a-genomics-informed-real-time-global-pathogen-surveillance-system
#16
REVIEW
Jennifer L Gardy, Nicholas J Loman
The recent Ebola and Zika epidemics demonstrate the need for the continuous surveillance, rapid diagnosis and real-time tracking of emerging infectious diseases. Fast, affordable sequencing of pathogen genomes - now a staple of the public health microbiology laboratory in well-resourced settings - can affect each of these areas. Coupling genomic diagnostics and epidemiology to innovative digital disease detection platforms raises the possibility of an open, global, digital pathogen surveillance system. When informed by a One Health approach, in which human, animal and environmental health are considered together, such a genomics-based system has profound potential to improve public health in settings lacking robust laboratory capacity...
November 13, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29129920/transcription-putting-r-loops-firmly-on-the-map
#17
Katharine H Wrighton
No abstract text is available yet for this article.
November 13, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29109524/navigating-complexity-to-breed-disease-resistant-crops
#18
REVIEW
Rebecca Nelson, Tyr Wiesner-Hanks, Randall Wisser, Peter Balint-Kurti
Plant diseases are responsible for substantial crop losses each year and pose a threat to global food security and agricultural sustainability. Improving crop resistance to pathogens through breeding is an environmentally sound method for managing disease and minimizing these losses. However, it is challenging to breed varieties with resistance that is effective, stable and broad-spectrum. Recent advances in genetic and genomic technologies have contributed to a better understanding of the complexity of host-pathogen interactions and have identified some of the genes and mechanisms that underlie resistance...
November 7, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29082913/human-gene-essentiality
#19
REVIEW
István Bartha, Julia di Iulio, J Craig Venter, Amalio Telenti
A gene can be defined as essential when loss of its function compromises viability of the individual (for example, embryonic lethality) or results in profound loss of fitness. At the population level, identification of essential genes is accomplished by observing intolerance to loss-of-function variants. Several computational methods are available to score gene essentiality, and recent progress has been made in defining essentiality in the non-coding genome. Haploinsufficiency is emerging as a critical aspect of gene essentiality: approximately 3,000 human genes cannot tolerate loss of one of the two alleles...
October 30, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29199285/gene-expression-spotting-single-rna-molecules-transcriptome-wide
#20
Michelle Trenkmann
No abstract text is available yet for this article.
January 2018: Nature Reviews. Genetics
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