Eases the process of filtering and prioritizing the presumably functional single nucleotide variants (SNVs) from a long list of SNVs identified in a typical whole exome sequencing (WES) study. dbNSFP can work as a local and self-sustaining database without need for internet connection. The database provides more than 82 800 000 non-synonymous SNVs (nsSNVs) and splice site SNVs (ssSNVs).
Gathers a set of 14 ionizing-Radiation Resistant Bacteria (IRRB) and 14 ionizing-radiation-sensitive bacteria (IRSB). MIL-ALIGN supplies information about proteins involved in basal DNA repair in IRRB.
Allows validation and analyses of human leukocyte antigen (HLA)-typed population samples and their connection with the GENE[VA] database. HLA-NET is a platform conceived as an evolving set of tools and utilities for the HLA world. These tools enable to handle and analyze data with ambiguities. The platform also contains a database of European, North African and West Asian population samples tested for HLA.
Consists of a novel neural network implementation applying ribosome profiling data for the annotation of translation start site (TISs) in prokaryotes. DeepRibo applies both convolutional neural network (CNN) and recurrent neural network (RNN) architectures for attaining and combining information from the ribosome profiling signal and DNA sequence. It is trained on a combination of available experiments for different bacteria and has been tested on de novo ribo-seq data of bacterial genomes.
Allows users to handle the computation of the joint statistics over sets of selected genome-wide association study (GWAS) results. JASS assists users to screen polymorphisms linked to their biological mechanisms of interest.
Identifies region-specific single nucleotide polymorphisms (SNPs) in which the polymorphic nucleotide creates a restriction fragment length polymorphism (RFLP) that can be readily assayed at the benchtop using restriction enzyme digestion of SNP-containing PCR products. SNP2RFLP permits user-defined queries that maximize the informative markers for a specific application, and allows to retrieve an adequate and manageable number of markers. This tool facilitates fine-mapping in a region containing a mutation of interest.