Results for "variant calling"
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KisSplice is a software that enables to analyse RNA-seq data with or without a reference genome. It is an exact loca...deal with an arbitrary number of biological conditions, and will quantify each variant...2818 days ago
- Most variant calling pipelines result in files containing large quantities of variant information. The variant call format (vcf) is an increasingly popular format for this data. The format of these files...
2815 days ago
- A probabilistic framework for structural variant discovery. Ryan M Layer, Colby Chiang, Aaron R Quinlan, and Ira M Hall. 2014. "LUMPY: a Probabilistic Framework for Structural Variant...
2809 days ago
- The accurate description and annotation of structural variants can be complex. This is du...to the different resolution that variants are reported from traditiona...s which make up a structural variant. A breakpoint is defined as a...ves a detailed description of the variant...
2772 days ago
- Visualization has played an extremely important role in the current genomi...revolution to inspect and understand variants, expression patterns, evolut...sequences, along with any associated variant calls in the sample. This way...other, going through not one but two variant...
2752 days ago
- Beagle is a software package that performs genotype calling, genotype phasing, imputation of ungenotyped markers, and identity-by-descent segment detection. Beagle version 4.1 has a more accura...
2746 days ago
- .... ART can also generate alignments in the SAM alignment or UCSC BED file format. ART can be used together with genome variants simulators (e.g. VarSim) for evaluating variant calling tools or methods.
2739 days ago
- EXCAVATOR2 is a collection of bash, R and Fortran scripts and codes that analyses Whol...In-targets and Off- targets reads. Specifically, it improves the precision of calling CNVs overlapping targeted exo...
2712 days ago
- PRISM is a software for split read (reads which span across a structrual variant -- SV ) mapping and SV calling from the mapping result. PRISM is able to detect small insertions and abitrary size del...
2702 days ago
BIMA V3: an aligner customized for mate pair library sequencing
Summary: Mate pair library sequencing is an effective and economical method for detecting genomic structural variants and chromosomal abnormalitie...ation, chimeras, etc.), and presence of structural variant...2698 days ago
