Results for "evaluation"
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Tools to Predict the Impact of Missense Variants !
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 pathogenicity prediction, including PolyPhen‐2, SIFT,...Tags: Evaluation, Tools, Predict, Missense, Variants, Hindered, Circularity
2195 days ago
Evaluation of genome assembly software based on long reads
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 diversity. They have also been applied to resequencing...Tags: Evaluation, genome, assembly, software, long, reads
1912 days ago
gEVAL: Genome Evaluation Browser
The gEVAL Browser allows the evaluation of genome assemblies through its tools and pre-computed analyses. The strength of this browser is the ability to navigate an up to date assembly and identify problematic regions and assist in strategizing potential solutions for these issues. Th...Tags: gEVAL, Genome, Evaluation, Browser
1775 days ago
SEASTAR: Systematic Evaluation of Alternative STArt site in RNA
SEASTAR (Systematic Evaluation of Alternative STArt site in RNA) is a software package for Transcription Start Site (TSS) identification and quantification using only RNA-seq data. It assembles novel TSSs based only on RNA-Seq data and merges them with known TSSs from a public database. This pack...Tags: SEASTAR, Systematic, Evaluation, Alternative, STArt, site, RNA
1353 days ago
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