We are analyzing https://link.springer.com/article/10.1186/s13059-016-0974-4.

Title:
The Ensembl Variant Effect Predictor | Genome Biology
Description:
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 extensive collection of genomic annotation, with a variety of interfaces to suit different requirements, and simple options for configuring and extending analysis. It is open source, free to use, and supports full reproducibility of results. The Ensembl Variant Effect Predictor can simplify and accelerate variant interpretation in a wide range of study designs.
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Keywords {🔍}

vep, pubmed, variants, variant, data, article, annotation, google, scholar, ensembl, genome, transcript, cas, analysis, table, central, genomic, sequence, input, results, accessed, human, transcripts, set, mar, reference, output, api, sequencing, effect, project, predictor, number, script, genetic, variation, gene, regulatory, res, disease, genomes, species, functional, protein, multiple, full, noncoding, regions, cancer, size,

Topics {✒️}

org/info/docs/tools/vep/script/index org/info/docs/tools/vep/script/vep_download int/mediacentre/factsheets/fs355/en/ paul flicek & fiona cunningham org/info/genome/variation/sources_phenotype_documentation org/info/genome/variation/predicted_data snp effect predictor /ensembl/ensembl-tools/archive/release/83 full size image protein-coupled receptor g1 genome-wide association loci exome aggregation consortium distinct megabase-sized regions variant effect predictor article download pdf high-throughput sequencing data org/mailman/listinfo/dev transcript-related fields reported pre-predicate checks enabled genome-wide research data large-scale sequencing projects hash-based tree structure promote transparent cross-comparison homo sapiens-focused projects numerous large-scale projects org/pub/current_variation/vep/ ensembl variation databases configurable quality-control process snp-trait associations improve genome-wide analysis genotype-tissue expression project pre-built data sets language-independent rest api variant effect prediction single nucleotide polymorphisms pre-process vcf input patients testing positive input file size privacy choices/manage cookies evidence-based transcript predictions online public databases post-gwas prioritization approaches million typical lines output web page creative commons license medical care based author information authors pathogenicity predictor scores custom-built software global alliance

Questions {❓}

How important are rare variants in common disease?
Org/Help/Glossary?

Schema {🗺️}

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         Microbial Genetics and Genomics
         Bioinformatics
         Evolutionary Biology
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