PolyPhen-2: Prediction of functional effects of human nsSNPs
PolyPhen-2 (Polymorphism Phenotyping v2) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations.2950 days ago
2861 days ago
Nemo – A stochastic, individual-base, genetically explicit simulation platform
...licitly, or set at random. The map can hold an unlimited number of loci of different types jointly, at any recombination scale (cM or lower). The effects of linkage can thus be finely...2818 days ago
2818 days ago
Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017
...cross several different institutions. For such studies, Strand NGS v3.1 includes confounding variable analysis to eliminate technical effects, including batch effects; the t-SNE plot; profile and...2431 days ago
simNGS and simLibrary – Software for Simulating Next-Gen Sequencing Data
...statistical models behind the AYB base-calling software. By default, observations only incorporate noise due to sequencing and do not incorporate effects from more esoteric sources of...2395 days ago
Indexcov: fast coverage quality control for whole-genome sequencing
...uencing coverage to rapidly identify samples with aberrant coverage profiles, reveal large-scale chromosomal anomalies, recognize potential batch effects, and infer the sex of a sampl...2121 days ago
2114 days ago
Ensembl Variation - Calculated variant consequences
...variant that is mapped to the reference genome, we identify all overlapping Ensembl transcripts. We then use a rule-based approach to predict the effects that each allele of the varia...2110 days ago
1573 days ago