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| Open AccessPlasma proteomic associations with genetics and health in the UK Biobank
The Pharma Proteomics Project generates the largest open-access plasma proteomics dataset to date, offering insights into trans protein quantitative trait loci across multiple biological domains, and highlighting genetic influences on ligand–receptor interactions and pathway perturbations across a diverse collection of cytokines and complement networks.
- Benjamin B. Sun
- , Joshua Chiou
- & Christopher D. Whelan
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Transcriptome variation in human tissues revealed by long-read sequencing
To understand the contribution of variants to transcript expression regulation, long-read transcriptome data are generated from the GTEx resource, and a new software package to perform allele-specific analysis is developed.
- Dafni A. Glinos
- , Garrett Garborcauskas
- & Beryl B. Cummings
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Article |
RNA editing underlies genetic risk of common inflammatory diseases
cis-RNA editing quantitative trait loci, which are associated with immunogenic double-stranded RNAs, underlie genome-wide association study variants in common autoimmune and inflammatory diseases.
- Qin Li
- , Michael J. Gloudemans
- & Jin Billy Li
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Article |
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci
A single-cell Poisson model is used to analyse eQTLs in memory T cells across continuous, dynamic cell states, revealing that the cell context is critical to understanding variation in eQTLs and their association with disease.
- Aparna Nathan
- , Samira Asgari
- & Soumya Raychaudhuri
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Article |
A natural mutator allele shapes mutation spectrum variation in mice
Natural variation in the mouse gene Mutyh influences the rate of C>A germline mutations.
- Thomas A. Sasani
- , David G. Ashbrook
- & Kelley Harris
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Article |
Exome sequencing of Finnish isolates enhances rare-variant association power
Exome-wide sequencing studies of populations in Finland identified 26 deleterious alleles associated with 64 quantitative traits that are clinically relevant to cardiovascular and metabolic diseases.
- Adam E. Locke
- , Karyn Meltz Steinberg
- & Nelson B. Freimer
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Letter |
Infant viewing of social scenes is under genetic control and is atypical in autism
Monozygotic twins show high concordance in eye- and mouth-looking, and this behaviour is markedly reduced in toddlers with autism spectrum disorder.
- John N. Constantino
- , Stefanie Kennon-McGill
- & Warren Jones
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Letter |
Directional dominance on stature and cognition in diverse human populations
An analysis of 16 health-related quantitative traits in approximately 350,000 individuals reveals statistically significant associations between genome-wide homozygosity and four complex traits (height, lung function, cognitive ability and educational attainment); in each case increased homozygosity associates with a decreased trait value, but no evidence was seen of an influence on blood pressure, cholesterol, or ten other cardio-metabolic traits.
- Peter K. Joshi
- , Tonu Esko
- & James F. Wilson
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Letter |
Obesity-associated variants within FTO form long-range functional connections with IRX3
Obesity-associated noncoding sequences within FTO are functionally connected with IRX3, and long-range enhancers in this region recapitulate aspects of IRX3 expression, suggesting that the obesity-associated interval is part of IRX3 regulation; Irx3-deficient mice have lower body weight and are resistant to diet-induced obesity, suggesting IRX3 as a novel determinant of body mass and composition.
- Scott Smemo
- , Juan J. Tena
- & Marcelo A. Nóbrega
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Letter |
Finding the sources of missing heritability in a yeast cross
In a cross between two yeast strains, detected loci are found to explain nearly the entire additive contribution to heritable variation for a number of quantitative traits.
- Joshua S. Bloom
- , Ian M. Ehrenreich
- & Leonid Kruglyak
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Letter |
The protein kinase Pstol1 from traditional rice confers tolerance of phosphorus deficiency
A gene that is present in phosphate-deficiency-tolerant rice but absent from modern rice varieties is characterized and named phosphorus-starvation tolerance 1 (PSTOL1); overexpression of PSTOL1 in rice species that naturally lack this gene confers tolerance to low phosphorus conditions, a finding that may have implications for agricultural productivity in rice-growing countries.
- Rico Gamuyao
- , Joong Hyoun Chin
- & Sigrid Heuer
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Letter |
DNase I sensitivity QTLs are a major determinant of human expression variation
In human lymphoblastoid cell lines, 8,902 loci were identified at which genetic variation is significantly associated with local DNase I sensitivity; these variants are responsible for a large fraction of expression quantitative trait loci.
- Jacob F. Degner
- , Athma A. Pai
- & Jonathan K. Pritchard
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Letter |
Hundreds of variants clustered in genomic loci and biological pathways affect human height
This very large genome-wide association study identifies hundreds of new genetic variants influencing adult height in at least 180 loci enriched for genes involved in skeletal growth defects. The results show that the likely causal gene is often located near the most strongly associated variant, that many loci have multiple independently associated variants and that associated variants are enriched for likely functional effects on genes.
- Hana Lango Allen
- , Karol Estrada
- & Joel N. Hirschhorn
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News |
Genetics tells tall tales
The genetic basis of common traits may be buried deeper than researchers had thought.
- Alla Katsnelson
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Letter |
Dissection of genetically complex traits with extremely large pools of yeast segregants
Complex heritable traits — such as human height and many human diseases — are caused by multiple genetic loci, each with small effects. It is hard to identify such loci, however, because of a lack of statistical power. Now, a method has been developed to overcome this problem. The method has been applied to chemical resistance traits and mitochondrial function in yeast, and has identified loci for each of these phenotypes.
- Ian M. Ehrenreich
- , Noorossadat Torabi
- & Leonid Kruglyak
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Letter |
Understanding mechanisms underlying human gene expression variation with RNA sequencing
There is much interest in understanding the genetic mechanisms that underlie individual variations in gene expression. Here, RNA sequencing has been used to study gene expression in lymphoblastoid cell lines derived from Nigerian individuals for whom extensive genotype information is known. Numerous genetic determinants of variation in gene expression were identified, including variation in transcription, splicing and allele-specific expression.
- Joseph K. Pickrell
- , John C. Marioni
- & Jonathan K. Pritchard
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Letter |
Transcriptome genetics using second generation sequencing in a Caucasian population
Here, sequencing has been used to characterize the mRNA fraction of the transcriptome in Caucasian individuals, to provide a fine-scale view of transcriptomes and to identify genetic variants that affect alternative splicing. Measuring allele-specific expression identified rare expression quantitative trait loci (eQTLs) and allelic differences in transcript structure, revealing new properties of genetic effects on the transcriptome.
- Stephen B. Montgomery
- , Micha Sammeth
- & Emmanouil T. Dermitzakis