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Open AccessAuthor Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
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Open AccessTrans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
Pubertal growth patterns correlate with future health outcomes. However, the genetic mechanisms mediating growth trajectories remain largely unknown. Here, we modeled longitudinal height growth with Super-Impo...
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Open AccessGenome-centric analysis of short and long read metagenomes reveals uncharacterized microbiome diversity in Southeast Asians
Despite extensive efforts to address it, the vastness of uncharacterized ‘dark matter’ microbial genetic diversity can impact short-read sequencing based metagenomic studies. Population-specific biases in geno...
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Open AccessWhole genome sequencing reveals hidden transmission of carbapenemase-producing Enterobacterales
Carbapenemase-producing Enterobacterales (CPE) infection control practices are based on the paradigm that detected carriers in the hospital transmit to other patients who stay in the same ward. The role of plasmi...
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Open AccessAssessing the impact of novelty and conformity on hesitancy towards COVID-19 vaccines using mRNA technology
Public hesitancy towards Covid-19 vaccines remains a major hurdle for mass vaccination programs today. While mRNA vaccines are more efficacious than conventional vaccines, it is unknown how much the novelty of...
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Open AccessPrioritising positively selected variants in whole-genome sequencing data using FineMAV
In population genomics, polymorphisms that are highly differentiated between geographically separated populations are often suggestive of Darwinian positive selection. Genomic scans have highlighted several su...
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Open AccessImpact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals
The prevalence of obesity and its related chronic diseases have been increasing especially in Asian countries. Obesity-related genetic variants have been identified, but these explain little of the variation i...
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Open AccessDeterminants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all...
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Open AccessCost effectiveness analysis of a polygenic risk tailored breast cancer screening programme in Singapore
This study aimed to evaluate the cost-effectiveness of a breast cancer screening programme that incorporates genetic testing using breast cancer associated single nucleotide polymorphisms (SNPs), against the c...
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Open AccessCommon variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic facto...
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Open AccessAnalysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations
Recent advances in genomic technologies have facilitated genome-wide investigation of human genetic variations. However, most efforts have focused on the major populations, yet trio genomes of indigenous popul...
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Open AccessExome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and...
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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide associatio...
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Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids
The concentrations of high- and low-density-lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations with lipids may be modified by smoking. We conduc...
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Open AccessGenomic prediction of tuberculosis drug-resistance: benchmarking existing databases and prediction algorithms
It is possible to predict whether a tuberculosis (TB) patient will fail to respond to specific antibiotics by sequencing the genome of the infecting Mycobacterium tuberculosis (Mtb) and observing whether the path...
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Open AccessInterethnic analyses of blood pressure loci in populations of East Asian and European descent
Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, we perform a multi-stage genome-wide association study for BP (max N = 289,...
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Frequent transmission of the Mycobacterium tuberculosis Bei**g lineage and positive selection for the EsxW Bei**g variant in Vietnam
To examine the transmission dynamics of Mycobacterium tuberculosis (Mtb) isolated from tuberculosis patients in Ho Chi Minh City, Vietnam, we sequenced the whole genomes of 1,635 isolates and compared these with ...
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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replicat...
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Correction: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Nature Communications 5: Article number: 4999 (2014); Published: 23 September 2014; Updated: 10 April 2018 The original version of this Article had an incorrect volume number of 4; it should have been 5. This ...
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Open AccessComparative whole-genome sequence analysis of Mycobacterium tuberculosis isolated from tuberculous meningitis and pulmonary tuberculosis patients
Tuberculous meningitis (TBM) is a severe form of tuberculosis with a high mortality rate. The factors associated with TBM pathogenesis are still unclear. Using comparative whole-genome sequence analysis we com...