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The Ensembl Variant Effect Predictor
The Ensembl Variant Effect Predictor is a powerful toolset for the analysis, annotation, and prioritization of genomic variants in coding and non-coding regions. It provides access to an extensiveExpand
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The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
TLDR
The National Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies (GWAS) Catalog provides a publicly available manually curated collection of published GWAS assaying at least 100 000 single-nucleotide polymorphisms and all SNP-trait associations with P <1 × 10−5. Expand
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An integrated map of structural variation in 2,504 human genomes
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classesExpand
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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
TLDR
In Ensembl, a web-based tool to predict the effect that newly discovered genomic variants have on known transcripts is indispensible in prioritizing and categorizing such variants. Expand
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The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
TLDR
The NHGRI-EBI GWAS Catalog has provided data from published genome-wide association studies since 2008. Expand
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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
TLDR
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. Expand
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The IPD and IMGT/HLA database: allele variant databases
TLDR
The Immuno Polymorphism Database (IPD) was developed to provide a centralized system for the study of polymorphism in genes of the immune system from a single site on the World Wide Web. Expand
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Population genomics of human gene expression
Genetic variation influences gene expression, and this variation in gene expression can be efficiently mapped to specific genomic regions and variants. Here we have used gene expression profiling ofExpand
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De novo assembly and genotyping of variants using colored de Bruijn graphs
Detecting genetic variants that are highly divergent from a reference sequence remains a major challenge in genome sequencing. We introduce de novo assembly algorithms using colored de Bruijn graphsExpand
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A Comparative Encyclopedia of DNA Elements in the Mouse Genome
The laboratory mouse shares the majority of its protein-coding genes with humans, making it the premier model organism in biomedical research, yet the two mammals differ in significant ways. To gainExpand
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