A5008075312- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Research Data Management Practices
- Bioinformatics and Genomic Networks
- Colorectal Cancer Screening and Detection
- Biomedical Text Mining and Ontologies
- Error Correcting Code Techniques
- MicroRNA in disease regulation
- Genomics and Chromatin Dynamics
- Genetic and phenotypic traits in livestock
- Machine Learning in Bioinformatics
- Forensic and Genetic Research
- Algorithms and Data Compression
European Bioinformatics Institute
2024
The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to most comprehensive database of human results. Currently, it contains close 7 000 publications >15 traits, from which more than 625 lead associations have been curated. Additionally, 85 full genome-wide summary statistics datasets-containing association data all variants in analysis-are available downstream analyses such meta-analysis, fine-mapping, Mendelian randomisation or...
Whole-genome data has become significantly more accessible over the last two decades. This can largely be attributed to both reduced sequencing costs and imputation models which make it possible obtain nearly whole-genome from less expensive genotyping methods, such as microarray chips. Although there are many different approaches imputation, Hidden Markov Model (HMM) remains most widely used. In this study, we compared latest versions of popular HMM-based tools for phasing imputation:...
Abstract The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to most comprehensive database of human results. Currently, it contains close 7,000 publications more than 15,000 traits, from which 625,000 lead associations have been curated. Additionally, 85,000 full genome-wide summary statistics datasets - containing association data all variants in analysis are available downstream analyses such meta-analysis, fine-mapping, Mendelian...
Generating polygenic risk scores for diseases and complex traits requires high quality GWAS summary statistic files. Often, these files can be difficult to acquire either as a result of unshared or incomplete data. To date, bioinformatics tools which focus on restoring missing columns containing identification association data are limited, has the potential increase number usable statistics files.SumStatsRehab was able restore rsID, effect/other alleles, chromosome, base pair position,...
Abstract Whole-genome data has become significantly more accessible over the last two decades. This can largely be attributed to both reduced sequencing costs and imputation models which make it possible obtain nearly whole-genome from less expensive genotyping methods, such as microarray chips. Although there are many different approaches imputation, Hidden Markov Model remains most widely used. In this study, we compared latest versions of popular based tools for phasing imputation: Beagle...
Abstract In an increasingly diverse world, including admixed individuals in genomic studies is imperative for equity and portability. A crucial first step precise local ancestry inference (LAI). We have developed Orchestra, a LAI model with unprecedented accuracy, trained on over 10,000 single-origin from 35 worldwide populations. employed Orchestra to delve into genetic relationships demographic histories, focus Latin Americans, prime example of admixture, the Ashkenazi Jewish, whose...
Abstract Background : Generating polygenic risk scores for diseases and complex traits requires high quality GWAS summary statistic files. Often, these files can be difficult to acquire either as a result of unshared or incomplete data. To date, bioinformatics tools which focus on restoring missing columns containing identification association data are limited, has the potential increase number usable statistics Results SumStatsRehab was able restore rsID, effect/other alleles, chromosome,...