...wsers showing only reference coordinates. Instead, structural variations captured by long reads or assembl...sample preparation issues, testing of aligners and variant-callers, and rapid curation of structural vari...
...ources as well as programming acumen. Since heatmaps are used to depict high-dime...e process of successfully converting data into graphics. For example, rendering i...omizable heatmaps. Results: We propose shinyheatmap: an advanced user-friendly he...
Summary: GenomeScope is an open-source web tool to rapidly estimate the overall characteristics of a genome, including genome size, heterozygosity rate, and repeat conte...
...1 in a published analysis, please report the program version and cite the appropriate article.
The citati...for Beagle's phasing algorithm is:
S R Browning and B L Browning (2007) Rapid and accurate haplotype phas...
...s research for cancer, drug development and precision medicine. We build self-improving systems to analyze millions of genomes, including the Graph Genome Suite — th...
...takes a set of DMPs, such as those hits above genome-wide significance threshold in an EWAS study, and analyses whether there is enrichment for overlap of putative functional elemen...
...ulation of single-end, paired-end/mate-pair reads of three major commercial next-generation sequencing platforms: Illumina's Solexa, Roche's 454 and Applied Biosystems' SOLiD. ART c...
HybPiper was designed for targeted sequence capture, in which DNA sequencing libr...cs. HybPiper is a suite of Python scripts that wrap and connect bioinformatics to...throughput DNA sequencing reads.
Targeted bait capture is a technique for sequen...
LINKS is a genomics application for scaffolding genome assemblies with long reads, such as those p...long sequences (eg. ONT reads, PacBio reads, another draft genomes, etc)
Paper at https://gigascience...