Genetic variation ≈ Genetic variation
View article: The GTEx Consortium atlas of genetic regulatory effects across human tissues
The GTEx Consortium atlas of genetic regulatory effects across human tissues Open
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program Open
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these d…
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Insights into human genetic variation and population history from 929 diverse genomes Open
Genomes from around the globe Genomic sequencing of diverse human populations to understand overall genetic diversity has lagged behind in-depth examination of specific populations. To add to our understanding of human genetic diversity, B…
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Microbial strain-level population structure and genetic diversity from metagenomes Open
Among the human health conditions linked to microbial communities, phenotypes are often associated with only a subset of strains within causal microbial groups. Although it has been critical for decades in microbial physiology to character…
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scMC learns biological variation through the alignment of multiple single-cell genomics datasets Open
Distinguishing biological from technical variation is crucial when integrating and comparing single-cell genomics datasets across different experiments. Existing methods lack the capability in explicitly distinguishing these two variations…
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Haplotype-resolved diverse human genomes and integrated analysis of structural variation Open
Resolving genomic structural variation Many human genomes have been reported using short-read technology, but it is difficult to resolve structural variants (SVs) using these data. These genomes thus lack comprehensive comparisons among in…
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RNA splicing is a primary link between genetic variation and disease Open
RNA splicing links genetics to disease Many genetic variants associated with disease have no apparent effect on any specific protein coding sequence. Li et al. systematically analyzed the effects of DNA variants on the main steps of gene r…
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Genetic Variants of SARS-CoV-2—What Do They Mean? Open
This Viewpoint discusses emerging genetic variants of SARS-CoV-2, including new "UK" and "mink" variants and the significance of the new variants to coronavirus transmissibility, spread, virulence, and efforts to vaccinate the population a…
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Pan-genome analysis highlights the extent of genomic variation in cultivated and wild rice Open
The rich genetic diversity in Oryza sativa and Oryza rufipogon serves as the main sources in rice breeding. Large-scale resequencing has been undertaken to discover allelic variants in rice, but much of the information for genetic variatio…
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A genomic perspective on hybridization and speciation Open
Hybridization among diverging lineages is common in nature. Genomic data provide a special opportunity to characterize the history of hybridization and the genetic basis of speciation. We review existing methods and empirical studies to id…
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Changes in genetic selection differentials and generation intervals in US Holstein dairy cattle as a result of genomic selection Open
Significance The introduction of genomic selection in dairy cattle improvement programs in 2008 was expected to increase rates of genetic gain, particularly for traits with low heritabilities, such as fertility and longevity. Our analysis …
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Software Selegen-REML/BLUP: a useful tool for plant breeding Open
The software Selegen-REML/BLUP uses mixed models, and was developed to optimize the routine of plant breeding programs. It addresses the following plants categories: allogamous, automagous, of mixed mating system, and of clonal propagation…
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The establishment of reference sequence for SARS‐CoV‐2 and variation analysis Open
Starting around December 2019, an epidemic of pneumonia, which was named COVID‐19 by the World Health Organization, broke out in Wuhan, China, and is spreading throughout the world. A new coronavirus, named severe acute respiratory syndrom…
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Genetic Causes and Modifiers of Autism Spectrum Disorder Open
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations. I…
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Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations Open
Alcohol consumption level and alcohol use disorder (AUD) diagnosis are moderately heritable traits. We conduct genome-wide association studies of these traits using longitudinal Alcohol Use Disorder Identification Test-Consumption (AUDIT-C…
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Shedding Light on the Grey Zone of Speciation along a Continuum of Genomic Divergence Open
Speciation results from the progressive accumulation of mutations that decrease the probability of mating between parental populations or reduce the fitness of hybrids-the so-called species barriers. The speciation genomic literature, howe…
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The crucial role of genome-wide genetic variation in conservation Open
The unprecedented rate of extinction calls for efficient use of genetics to help conserve biodiversity. Several recent genomic and simulation-based studies have argued that the field of conservation biology has placed too much focus on con…
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Determinants of telomere length across human tissues Open
Telomere length within an individual varies in a correlated manner across most tissues.
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Phylogenomics Reveals Three Sources of Adaptive Variation during a Rapid Radiation Open
Speciation events often occur in rapid bursts of diversification, but the ecological and genetic factors that promote these radiations are still much debated. Using whole transcriptomes from all 13 species in the ecologically and reproduct…
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The pangenome of hexaploid bread wheat Open
Summary There is an increasing understanding that variation in gene presence–absence plays an important role in the heritability of agronomic traits; however, there have been relatively few studies on variation in gene presence–absence in …
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The Genetic Cost of Neanderthal Introgression Open
Approximately 2–4% of genetic material in human populations outside Africa is derived from Neanderthals who interbred with anatomically modern humans. Recent studies have shown that this Neanderthal DNA is depleted around functional genomi…
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The Genetics of Transcription Factor DNA Binding Variation Open
Most complex trait-associated variants are located in non-coding regulatory regions of the genome, where they have been shown to disrupt transcription factor (TF)-DNA binding motifs. Variable TF-DNA interactions are therefore increasingly …
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Genetics and the conservation of natural populations: allozymes to genomes Open
I consider how the study of genetic variation has influenced efforts to conserve natural populations over the last 50 years. Studies with allozymes in the 1970s provided the first estimates of the amount of genetic variation within and bet…
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Enhancing the rate of genetic gain in public-sector plant breeding programs: lessons from the breeder’s equation Open
The integration of new technologies into public plant breeding programs can make a powerful step change in agricultural productivity when aligned with principles of quantitative and Mendelian genetics. The breeder's equation is the foundat…
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Large Variation in the Ratio of Mitochondrial to Nuclear Mutation Rate across Animals: Implications for Genetic Diversity and the Use of Mitochondrial DNA as a Molecular Marker Open
It is commonly assumed that mitochondrial DNA (mtDNA) evolves at a faster rate than nuclear DNA (nuDNA) in animals. This has contributed to the popularity of mtDNA as a molecular marker in evolutionary studies. Analyzing 121 multilocus dat…
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Runs of homozygosity: current knowledge and applications in livestock Open
Summary This review presents a broader approach to the implementation and study of runs of homozygosity ( ROH ) in animal populations, focusing on identifying and characterizing ROH and their practical implications. ROH are continuous homo…
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A population genetic interpretation of GWAS findings for human quantitative traits Open
Human genome-wide association studies (GWASs) are revealing the genetic architecture of anthropomorphic and biomedical traits, i.e., the frequencies and effect sizes of variants that contribute to heritable variation in a trait. To interpr…
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Adaptive introgression: a plant perspective Open
Introgression is emerging as an important source of novel genetic variation, alongside standing variation and mutation. It is adaptive when such introgressed alleles are maintained by natural selection. Recently, there has been an explosio…
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The infinitesimal model: Definition, derivation, and implications Open
Our focus here is on the infinitesimal model. In this model, one or several quantitative traits are described as the sum of a genetic and a non-genetic component, the first being distributed within families as a normal random variable cent…
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Effect of Heavy Metals Pollution on Soil Microbial Diversity and Bermudagrass Genetic Variation Open
Heavy metal pollution is a serious global environmental problem as it adversely affects plant growth and genetic variation. It also alters the composition and activity of soil microbial communities. The objectives of this study were to det…