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Genome Biology, ISSN 1474-7596, 06/2016, Volume 17, Issue 1
The Ensembl Variant Effect Predictor is a powerful toolset for the analysis, annotation, and prioritization of genomic variants in coding and non-coding... 
NGS | SNP | Genome | Variant annotation | DATABASE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | ANNOTATION | SEQUENCE | GENETICS & HEREDITY | CONSEQUENCES | MUTATIONS | COMPLEX TRAITS | GENCODE | SINGLE NUCLEOTIDE POLYMORPHISMS | Haplotypes | Disease | Genomics | Genes | Genomes | Patients | Consortia | Interfaces | Proteins | Annotations | Mutation | Bioinformatics | Cancer
Journal Article
JAMA - Journal of the American Medical Association, ISSN 0098-7484, 11/2018, Volume 320, Issue 18, pp. 1929 - 1930
Journal Article
Bioinformatics, ISSN 1367-4803, 8/2011, Volume 27, Issue 15, pp. 2156 - 2158
The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Genetic Variation | Information Storage and Retrieval - methods | Humans | Alleles | Genotype | Software | Genome, Human | Genomics - methods | Applications Note
Journal Article
BMC Bioinformatics, ISSN 1471-2105, 02/2018, Volume 19, Issue 1, pp. 57 - 13
Background: Prioritization of sequence variants for diagnosis and discovery of Mendelian diseases is challenging, especially in large collections of whole... 
Variants of uncertain significance | Human genome | Variant prioritization | Genomics | GUIDELINES | BIOCHEMICAL RESEARCH METHODS | SEQUENCE VARIANTS | MODEL | IDENTIFICATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | MATHEMATICAL & COMPUTATIONAL BIOLOGY | FRAMEWORK | PROTEIN FUNCTION | ASSOCIATION | Usage | Analysis | Science | Research | Computational biology | Computer programs
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2013, Volume 368, Issue 2, pp. 117 - 127
Journal Article