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Mashup Score: 2Using genetic association data to guide drug discovery and development: Review of methods and applications - 1 year(s) ago
Mendelian randomization exploits naturally occurring randomization in the transmission of genetic variants to mimic randomized trials in observational data. We review statistical methods and applications to showcase opportunities for applying Mendelian randomization in guiding pharmaceutical development efforts to target the right mechanism in the right population at the right time.
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Mashup Score: 21
We present VIPRS, a fast and accurate variational Bayesian method for estimating polygenic risk scores from genome-wide association study (GWAS) data. The method is shown to be robust and competitively accurate against popular baselines and scales well to dense genotype array data.
Categories: Cardiologists, Latest HeadlinesTweet
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Mashup Score: 4Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches - 1 year(s) ago
Mendelian randomization and colocalization are two statistical approaches that can be applied to summarized data from genome-wide association studies (GWASs) to understand relationships between traits and diseases. However, despite similarities in scope, they are different in their objectives, implementation, and interpretation, in part because they were developed to serve different scientific…
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Mashup Score: 0Deletion mapping of regulatory elements for GATA3 in T cells reveals a distal enhancer involved in allergic diseases - 1 year(s) ago
To map regulatory elements for GATA3, we deleted genome sequences in human T cells. We discovered a regulatory sequence 1 Mb downstream of GATA3 that contains variants associated with allergic disease, demonstrating how deletions can identify regulatory sequences and help interpret hits from genome-wide association studies.
Categories: Genetics, Latest HeadlinesTweet
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Mashup Score: 5Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare - 1 year(s) ago
We describe outcomes of a 5-year national program to accelerate the implementation of genomics into healthcare. We evaluated genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Simultaneously, we built skills, infrastructure, policy, and data resources to drive discovery research and support clinical genomic delivery.
Categories: Cardiologists, Latest HeadlinesTweet
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Mashup Score: 1Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries - 1 year(s) ago
Since 2005, genome-wide association (GWA) datasets have been largely biased toward sampling European ancestry individuals, and recent studies have shown that GWA results estimated from self-identified European individuals are not transferable to non-European individuals because of various confounding challenges. Here, we demonstrate that enrichment analyses that aggregate SNP-level association…
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Mashup Score: 4Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations - 1 year(s) ago
Genetic studies in underrepresented populations identify disproportionate numbers of novel associations. However, most genetic studies use genotyping arrays and sequenced reference panels that best capture variation most common in European ancestry populations. To compare data generation strategies best suited for underrepresented populations, we sequenced the whole genomes of 91 individuals to…
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Mashup Score: 0Engagement and return of results preferences among a primarily African American genomic sequencing research cohort - 1 year(s) ago
Genomics researchers are increasingly interested in what constitutes effective engagement of individuals from underrepresented groups. This is critical for longitudinal projects needed to inform the implementation of precision medicine. Return of results is one opportunity for engagement. The aims of this study were to determine participant perspectives on optimal engagement strategies and…
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Mashup Score: 1Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries - 1 year(s) ago
Lack of diversity in human genomics limits our understanding of the genetic underpinnings of complex traits, hinders precision medicine, and contributes to health disparities. To map genetic effects on gene regulation in the underrepresented Indonesian population, we have integrated genotype, gene expression, and CpG methylation data from 115 participants across three island populations that…
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Mashup Score: 0
Humans exhibit remarkable interindividual and interpopulation immune response variability upon microbial challenges. Cytokines play a vital role in regulating inflammation and immune responses, but dysregulation of cytokine responses has been implicated in different disease states. Host genetic factors were previously shown to significantly impact cytokine response heterogeneity mainly in…
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Using genetic association data to guide drug discovery and development: Review of methods and applications @AJHGNews review @GeneticsSociety @stevesphd https://t.co/awFIcUmKmi