variant calling
Finding genetic differences
Variant calling is the process of identifying differences between a DNA sequence and a reference genome.
In genomics, it detects mutations, single nucleotide polymorphisms, insertions, and deletions from sequencing data.
The term is standard in bioinformatics pipelines: After alignment, we run variant calling to find mutations.
The identified differences are called variants.
- mutationPermanent DNA alteration
- genotypeOrganism's complete allele set
- alleleGene variant at one locus
- readsInterprets written symbols
- alignmentCorrect relative positioning
coverage · heterozygous · homozygous · polymorphism · pileup · reference · genome · filtering · false positive · somatic · germline · depth · quality · haplotype · chromosome · nucleotide · pipeline · detection
- Bioinformaticssequence alignment, DNA sequencing, homology, gene expression, gap
- GenomicsDNA sequencing, genome sequencing, sequencing, genome, DNA
- geneticsDNA, allele, genotype, genes, gene
- Transcriptomicsgene expression, normalization, fragmentation, trimming, mapping
- biomarkersbiomarkers, troponin, PSA, creatinine, hemoglobin A1c
- Genetic Mutationsmutations, point mutation, mutagenesis, gene mutation, nonsense