Prioritizing missense variants for further experimental investigation is a key challenge in current sequencing studies for exploring complex and Mendelian diseases. A large number of in silico tools have been employed for the task of...
github.com - Scallop is an accurate reference-based transcript assembler. Scallop features its high accuracy in assembling multi-exon transcripts as well as lowly expressed transcripts. Scallop achieves this improvement through a novel algorithm that can be...
github.com - VcfR is an R package intended to allow easy manipulation and visualization of variant call format (VCF) data. Functions are provided to rapidly read from and write to VCF files. Once VCF data is read into R a parser function extracts matrices from...
the sequenced reads can be mapped to the organism’s genes to assess how differently the genes are expressed under the experimental circumstances as opposed to the control scenario. This is known as differential expression (DE) analysis
www.bioconductor.org - This package is intended to provide tools for the quality assessment of data produced by Oxford Nanopore’s MinION sequencer. It includes a functions to generate a number plots for examining the statistics that we think will be useful for this...
sourceforge.net - Metassembler combines multiple whole genome de novo assemblies into a combined consensus assembly using the best segments of the individual assemblies.
Genome assembly projects typically run multiple algorithms in an attempt to find the single best...
www.breedinginsight.org - Breeding Insight at Cornell University will leverage recent improvements in genomics and open source informatics components, and in partnership with small breeding programs, will enable these programs to harness powerful digital...
The institute has evolved over the years into a multi-disciplinary research organization with stress on fundamental research in its pursuit of advancement of knowledge in Science and technology and at the same time developing highly competent and...