BOL

www.igenbio.com - ERGO 2.0 provides a systems biology informatics toolkit centered on comparative genomics to capture, query, and visualize sequenced genomes.  Using Igenbio's proprietary algorithms, and the most comprehensive genomic database integrated with...

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...

Structural variation caller tools using long reads

http://www.ub.edu/dnasp/ - DnaSP, DNA Sequence Polymorphism, is a software package for the analysis of DNA polymorphisms using data from a single locus (a multiple sequence aligned -MSA data), or from several loci (a Multiple-MSA data, such as formats generated by some...

Meaningful analysis of next-generation sequencing (NGS) data, which are produced extensively by genetics and genomics studies, relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and...

github.com - RagTag is a collection of software tools for scaffolding and improving modern genome assemblies. Tasks include: Homology-based misassembly correction Homology-based assembly scaffolding and patching Scaffold merging

an R package for analysing ontologies and protein domain annotations

broadinstitute.github.io - Picard is a set of command line tools for manipulating high-throughput sequencing (HTS) data and formats such as SAM/BAM/CRAM and VCF. These file formats are defined in the Hts-specs repository. See especially the SAM specification and the VCF...

github.com - Canu is a fork of the Celera Assembler designed for high-noise single-molecule sequencing (such as the PacBio RSII or Oxford Nanopore MinION). The software is currently alpha level, feel free to use and report issues encountered. Canu is...

bitbucket.org - RCircos package provides a simple and flexible way to make Circos 2D track plots with R and could be easily integrated into other R data processing and graphic manipulation pipelines for presenting large-scale multi-sample genomic research data. It...