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Showing papers in "Trends in Genetics in 2020"


Journal ArticleDOI
TL;DR: The current understanding of the dynamic regulation of m6A-mediated mRNA decay through the crosstalk between m 6A (or YTHDF2) and other cellular factors is described.

208 citations


Journal ArticleDOI
TL;DR: Up-to-date knowledge on the biogenesis of the RNA m6A modification is reviewed, including the cis-regulatory elements and trans-acting factors that determine general de novo m 6A deposition and modulate cell type-specific m6a patterns, and the biological significance of such regulation is discussed.

165 citations


Journal ArticleDOI
TL;DR: The importance of interpretable ML, different strategies for interpreting ML models, and examples of how these strategies have been applied are discussed, and challenges and promising future directions for interpretableML in genetics and genomics are identified.

162 citations


Journal ArticleDOI
TL;DR: Mechanisms explaining landmark features of MHC genes: extreme polymorphism, excess of nonsynonymous changes in peptide-binding domains, and long gene genealogies are reviewed.

152 citations


Journal ArticleDOI
TL;DR: This review tries to reconcile the different views of the transcriptional process emerging from studies of bursting, and how this work contextualizes the relative importance of different regulatory inputs to normal dynamic ranges of gene activity.

116 citations


Journal ArticleDOI
TL;DR: Current approaches for direct targeting of m SWI/SNF complex structure and function are reviewed and settings in which aberrant mSWI/ SNF biology is implicated in oncology and other diseases are discussed.

115 citations


Journal ArticleDOI
TL;DR: Analysis of the two large-scale human pangenome projects revealed key differences, most likely stemming from divergent evolutionary histories, but also surprising similarities.

111 citations


Journal ArticleDOI
TL;DR: The origins of bivalent promoters and the mechanisms implicated in their acquisition and maintenance are discussed and the potential link between bivalency and cancer is highlighted which could drive biomedical research in disease etiology and treatment.

89 citations


Journal ArticleDOI
TL;DR: Recent developments in multiplexed, super-resolution microscopy have enabled an unprecedented view of the polymeric structure of chromatin - from the loose folds of whole chromosomes to the detailed loops of cis-regulatory elements that regulate gene expression.

83 citations


Journal ArticleDOI
TL;DR: The population genetic forces (mutation, recombination, drift, and selection) that shape microbiome genetic diversity within and between hosts, as well as efforts towards predictive models that leverage microbiome genetics are explored.

80 citations


Journal ArticleDOI
TL;DR: The most exciting recent developments in genomic signatures of natural selection underlying human adaptation are reviewed and the future of this field is discussed.

Journal ArticleDOI
TL;DR: It is argued that HGT is a small but significant player in the evolution of microbial eukaryotes and examples where HGT has facilitated gain of adaptive functions and in some cases, underpinned major lifestyle transitions are provided.

Journal ArticleDOI
TL;DR: The combined analysis of nuclear and mitochondrial DNA allows rapid diagnosis for the vast majority of patients, but new challenges have emerged.

Journal ArticleDOI
TL;DR: Observations are discussed that lend support for the idea that small RNAs might participate in mechanisms that trigger epigenetic gene expression changes in response to environmental cues and the effects these could have on population adaptation.

Journal ArticleDOI
TL;DR: Recent examples of inherited noncoding alterations that are responsible for Mendelian disorders or act to influence complex traits are reviewed.

Journal ArticleDOI
TL;DR: Recent advances in understanding of epigenetic regulation and programming during MAFLD are reviewed, including DNA methylation, histone modifications, chromatin remodelling, transcriptional control, and noncoding (nc)RNAs.

Journal ArticleDOI
TL;DR: This work contends that relaxed selection due to sex-limited gene expression is the correct null model for tests of molecular evolution of reproductive genes and argues that it may play a more significant role in the evolutionary diversification of reproductive gene than previously recognized.

Journal ArticleDOI
TL;DR: An increased understanding of the relationship between TEs and pathological processes in the brain improves the potential for novel diagnostics and interventions for brain disorders.

Journal ArticleDOI
TL;DR: This decade has seen dramatic progress in single-cell technologies establishing the diverse phenomena of cell size control in animal cells and pathways forward are suggested to determine the underlying molecular mechanisms.

Journal ArticleDOI
TL;DR: The hypothesis that germinal polymorphisms may regulate the expression of the SARS-CoV-2 cellular target itself and proteases controlling the process of its shedding or, conversely, its internalization is supported.

Journal ArticleDOI
TL;DR: An updated view of transcription termination in human cells is provided, highlighting common themes and some interesting differences between the contexts in which it occurs.

Journal ArticleDOI
TL;DR: How mouse systems genetics helps to understand human diseases and to advance the development of precision medicine is discussed, with an emphasis on the existing resources and strategies.

Journal ArticleDOI
TL;DR: Major advances in understanding the mechanisms underlying transcriptional silencing at DSBs are highlighted, its functional implications on repair are discussed, and the potential of exploiting them for targeted cancer therapy is discussed.

Journal ArticleDOI
TL;DR: Different proposed forms of mitonuclear compensatory coevolution are reviewed: nuclear genome evolves to compensate for the deleterious alleles in the mitochondrial genome, which presents a potential solution to the paradox of Muller's ratchet without loss of function.

Journal ArticleDOI
TL;DR: The next phase of SARS-CoV-2 research into severe acute respiratory syndrome coronavirus 2 (SARSCoV- 2) is under way.

Journal ArticleDOI
TL;DR: Multiple categories of molQTLs are reviewed, including those associated with transcriptome, post-transcriptional regulation, epigenetics, proteomics, metabolomics, and the microbiome, to highlight future opportunities to better understand the functional significance of genetic variants and to utilize the discovery of mol QTLs in precision medicine.

Journal ArticleDOI
TL;DR: Recent advances in the understanding of the molecular mechanisms and cellular bases underlying these fundamental and important biological processes responsible for generating two distinct cells through one cell division are discussed.

Journal ArticleDOI
TL;DR: Reduced complexity crosses (RCCs) are explored between phenotypically divergent, yet genetically similar, rodent substrains to enhance discovery-based genetics of complex traits.

Journal ArticleDOI
TL;DR: How telomere dysfunction can initiate genomic complexity and the emerging mechanisms of chromothripsis are discussed.

Journal ArticleDOI
TL;DR: Observations in Drosophila paint a dynamic picture of sex chromosome differentiation, suggesting that rapidly evolving genomic battles over segregation are rampant on young sex chromosomes and utilize RNAi to defend the genome against selfish elements that manipulate fair meiosis.