Results for "variation"
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SeqMule: Automated human exome/genome variants detection
SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file. SeqMule also has some built-in...Tags: Bioinformatics, Analysis, Assembly, Genome, SeqMule, Exome, Structure, Variation
2613 days ago
Ensembl Variation - Calculated variant consequences
For each variant that is mapped to the reference genome, we identify all overlapping Ensembl transcripts. We then use a rule-based approach to predict the effects that each allele of the variant may have on each transcript. The set of consequence terms, defined by the Sequence Ontology ...Tags: Ensembl, Variation, Calculated, variant, consequences, Variant, Effect, Predictor
2062 days ago
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