github.com - SvABA is a method for detecting structural variants in sequencing data using genome-wide local assembly. Under the hood, SvABA uses a custom implementation of SGA (String Graph Assembler) by Jared Simpson, and BWA-MEM by Heng Li....
doc-openbio.readthedocs.io - 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...
github.com - MALVA is able to genotype multi-allelic SNPs and indels without mapping reads
MALVA calls correctly more indels than the most widely adopted genotyping pipelines
Mapping-free approaches are as accurate as alignment-based ones, while being...
github.com - Genome scaffolding is a classical challenging problem in bioinformatics. It refers to joining assembly contigs into chains (called scaffolds). The join between two contigs A and B is considered correct if:
Their relative orientation is...
github.com - Cogent is a tool that identifies gene families and reconstructs the coding genome using high-quality transcriptome data without a reference genome, and can be used to check assemblies for the presence of these known coding...
TGS technologies have been used to produce highly accurate de novo assemblies of hundreds of microbial genomes and highly contiguous reconstructions of many dozens of plant and animal genomes, enabling new insights into evolution and sequence...
busca.biocomp.unibo.it - BUSCA (Bologna Unified Subcellular Component Annotator) is a web-server for predicting protein subcellular localization. BUSCA integrates different tools to predict localization-related protein features (DeepSig, TPpred3, PredGPI and ENSEMBLE3.0) as...
Open source software is software that can be freely used, changed, and shared (in modified or unmodified form) by anyone. Open source software is made by many people, and distributed under licenses that comply with the Open Source Definition.The...
pevsnerlab.kennedykrieger.org - DRAGON: Database Referencing of Array Genes Online
SNOMAD: Standardization and Normalization of Microarray Data
SNPduo: SNP Analysis Between Two Individuals
SNPtrio: Analyzing and Visualizing and Inheritance Patterns in Trios
SNPscan: Data...