ArticleGenome biology2010
A standard variation file format for human genome sequences.
Article in Genome biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed.
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- Analysis of splice variants of the human protein disulfide isomerase (P4HB) gene.BMC genomics · 2020Article
- Organizing genome engineering for the gigabase scale.Nature communications · 2020Review
- Bioinformatic Workflows for Generating Complete Plastid Genome Sequences-An Example fromLife (Basel, Switzerland) · 2018Article
- Genome Annotation Generator: a simple tool for generating and correcting WGS annotation tables for NCBI submission.GigaScience · 2018Article
- The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.BMC bioinformatics · 2018Article
- Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.The Journal of molecular diagnostics : JMD · 2017Article
- A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.BMC pulmonary medicine · 2017Article
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- FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation.Journal of biomedical semantics · 2016Article
- Human genetic variation database, a reference database of genetic variations in the Japanese population.Journal of human genetics · 2016Article
- PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.PLoS computational biology · 2016Article
- Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.Human genomics · 2016Article
- Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology.Frontiers in neuroscience · 2016Article
- BigQ: a NoSQL based framework to handle genomic variants in i2b2.BMC bioinformatics · 2015Article
- Good laboratory practice for clinical next-generation sequencing informatics pipelines.Nature biotechnology · 2015Article
- Improving the Sequence Ontology terminology for genomic variant annotation.Journal of biomedical semantics · 2015Article
- Article
- EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working Group.Yearbook of medical informatics · 2014Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Here we describe the Genome Variation Format (GVF) and the 10Gen dataset. GVF, an extension of Generic Feature Format version 3 (GFF3), is a simple tab-delimited format for DNA variant files, which uses Sequence Ontology to describe genome variation data. The 10Gen dataset, ten human genomes in GVF format, is freely available for community analysis from the Sequence Ontology website and from an Amazon elastic block storage (EBS) snapshot for use in Amazon's EC2 cloud computing environment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.