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Nature Reviews. Genetics

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https://www.readbyqxmd.com/read/29789687/first-line-genomic-diagnosis-of-mitochondrial-disorders
#1
F Lucy Raymond, Rita Horvath, Patrick F Chinnery
No abstract text is available yet for this article.
May 22, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29789686/the-personal-and-clinical-utility-of-polygenic-risk-scores
#2
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/29784960/some-like-it-hot-sex-determination-in-turtles
#3
Linda Koch
No abstract text is available yet for this article.
May 21, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29765162/scrutinizing-spliceosomes
#4
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
#5
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
#6
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/29725087/heterogeneity-and-specialized-functions-of-translation-machinery-from-genes-to-organisms
#7
REVIEW
Naomi R Genuth, Maria Barna
Regulation of mRNA translation offers the opportunity to diversify the expression and abundance of proteins made from individual gene products in cells, tissues and organisms. Emerging evidence has highlighted variation in the composition and activity of several large, highly conserved translation complexes as a means to differentially control gene expression. Heterogeneity and specialized functions of individual components of the ribosome and of the translation initiation factor complexes eIF3 and eIF4F, which are required for recruitment of the ribosome to the mRNA 5' untranslated region, have been identified...
May 3, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29713013/tracing-cell-lineage-histories
#8
Darren J Burgess
No abstract text is available yet for this article.
April 30, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29713012/prions-prionoids-and-protein-misfolding-disorders
#9
REVIEW
Claudia Scheckel, Adriano Aguzzi
Prion diseases are progressive, incurable and fatal neurodegenerative conditions. The term 'prion' was first nominated to express the revolutionary concept that a protein could be infectious. We now know that prions consist of PrPSc , the pathological aggregated form of the cellular prion protein PrPC . Over the years, the term has been semantically broadened to describe aggregates irrespective of their infectivity, and the prion concept is now being applied, perhaps overenthusiastically, to all neurodegenerative diseases that involve protein aggregation...
April 30, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29695757/a-breath-holding-adaptation
#10
Michelle Trenkmann
No abstract text is available yet for this article.
April 25, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29692414/a-to-i-rna-editing-immune-protector-and-transcriptome-diversifier
#11
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/29692413/structural-variation-in-the-3d-genome
#12
REVIEW
Malte Spielmann, Darío G Lupiáñez, Stefan Mundlos
Structural and quantitative chromosomal rearrangements, collectively referred to as structural variation (SV), contribute to a large extent to the genetic diversity of the human genome and thus are of high relevance for cancer genetics, rare diseases and evolutionary genetics. Recent studies have shown that SVs can not only affect gene dosage but also modulate basic mechanisms of gene regulation. SVs can alter the copy number of regulatory elements or modify the 3D genome by disrupting higher-order chromatin organization such as topologically associating domains...
April 24, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29686399/linking-tissues-to-disease
#13
Ross Cloney
No abstract text is available yet for this article.
April 23, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29686398/taking-aim-at-transcriptional-regulator-targets
#14
Linda Koch
No abstract text is available yet for this article.
April 23, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29643443/dna-methylation-based-biomarkers-and-the-epigenetic-clock-theory-of-ageing
#15
REVIEW
Steve Horvath, Kenneth Raj
Identifying and validating molecular targets of interventions that extend the human health span and lifespan has been difficult, as most clinical biomarkers are not sufficiently representative of the fundamental mechanisms of ageing to serve as their indicators. In a recent breakthrough, biomarkers of ageing based on DNA methylation data have enabled accurate age estimates for any tissue across the entire life course. These 'epigenetic clocks' link developmental and maintenance processes to biological ageing, giving rise to a unified theory of life course...
April 11, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29615820/human-evolution-archaic-admixture-with-denisovans
#16
Grant Otto
No abstract text is available yet for this article.
April 4, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29599501/piercing-the-dark-matter-bioinformatics-of-long-range-sequencing-and-mapping
#17
REVIEW
Fritz J Sedlazeck, Hayan Lee, Charlotte A Darby, Michael C Schatz
Several new genomics technologies have become available that offer long-read sequencing or long-range mapping with higher throughput and higher resolution analysis than ever before. These long-range technologies are rapidly advancing the field with improved reference genomes, more comprehensive variant identification and more complete views of transcriptomes and epigenomes. However, they also require new bioinformatics approaches to take full advantage of their unique characteristics while overcoming their complex errors and modalities...
March 29, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29576615/enhancing-the-accuracy-of-next-generation-sequencing-for-detecting-rare-and-subclonal-mutations
#18
REVIEW
Jesse J Salk, Michael W Schmitt, Lawrence A Loeb
Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population of cells. Although next-generation sequencing (NGS) technologies have revolutionized the study of genomic variation between species and individual organisms, most have limited ability to accurately detect and quantify rare variants among the different genome copies in heterogeneous mixtures of cells or molecules. We describe the technical challenges in characterizing subclonal variants using conventional NGS protocols and the recent development of error correction strategies, both computational and experimental, including consensus sequencing of single DNA molecules...
March 26, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29576614/human-genetics-population-scale-family-trees-from-publicly-available-data
#19
Grant Otto
No abstract text is available yet for this article.
March 26, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29563555/the-genetics-of-fruit-flavour-preferences
#20
REVIEW
Harry J Klee, Denise M Tieman
Intensively bred fruit crops, including tomatoes and strawberries, are widely viewed as lacking flavour. The lack of breeder focus on the consumer is largely due to the genetic complexity of the flavour phenotype as well as a lack of a simple assay that can define consumer preferences. Rapid advances in genomics have opened up new opportunities to understand the chemistry and genetics of flavour. Here, we describe the underlying causes for the loss of flavour in fruits over time and delineate a blueprint for defining the chemistry of consumer liking, reducing that knowledge into a molecular roadmap for flavour improvement...
March 21, 2018: Nature Reviews. Genetics
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