Download Cross Gene: A Comprehensive Resource for Genomic Mapping and 3D Structure Data
Many Gene Ontology terms are cross-referenced to corresponding concepts from a number of external vocabularies, including Enzyme Commission numbers, KEGG, Reactome Pathways, and Wikipedia. Please report any errors or suggest alternatives to the GO helpdesk.
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This is the basic version of the GO, filtered such that the graph is guaranteed to be acyclic and annotations can be propagated up the graph. The relations included are is a, part of, regulates, negatively regulates and positively regulates. This version excludes relationships that cross the 3 GO hierarchies. This version should be used with most GO-based annotation tools.
These files contain the core GO ontology in two formats, OBO and OWL-RDF/XML. This view includes relationships not in the filtered version of GO including has_part and occurs_in. Many of these relationships may not be safe for propagating annotations across, so this version should not be used with legacy GO tools. This version excludes relationships to external ontologies.
This is the fully axiomatised version of the GO. It includes cross-ontology relationships (axioms) and imports additional required ontologies including ChEBI, Cell Ontology and Uberon. It also includes a complete set of relationship types including some not in go.obo/go.owl. This version is only available in OWL format.
Many GO classes have been cross-referenced (mapped) to a number of external classification systems. The cross-references of external classification systems to GO page contains more information and links to the cross-reference2GO files.
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(October 2019) The PolyLoc software can be downloaded here. PolyLoc is a method that leverages the results of PolyFun to perform polygenic localization of complex trait heritability, as described in our manuscript Functionally-informed fine-mapping and polygenic localization of complex trait heritability (Weissbrod et al. 2020).
(updated October 2018) The ldsc software can be downloaded here. LD Score regression (Bulik-Sullivan et al. 2015a) is a method for distinguishing confounding from polygenicity in genome-wide association studies. Stratified LD Score regression (Finucane et al. 2015; functional annotations here) is a method for partitioning heritability by functional category using GWAS summary statistics. Cross-trait LD Score regression (Bulik-Sullivan et al. 2015b) is a method for estimating genetic correlations using GWAS summary statistics. We have extended stratified LD score regression to gene expression phenotypes (Liu et al. 2017). We have also extended stratified LD score regression to continuous annotations (Gazal et al. 2017). We have also developed an approach that uses stratified LD score regression to identify disease-relevant tissues and cell types with heritability enrichment in specifically expressed genes (Finucane et al. 2018; functional annotations here). We have also extended stratified LD score regression to low-frequency variants (Gazal et al. 2018; functional annotations here). We have also identified conditionally independent signals of disease heritability enrichment for ancient enhancers, enhancers that are conserved across species, ancient promoters, and promoters of loss-of-function intolerant ExAC genes (Hujoel et al. 2019; functional annotations here). We have also identified enriched pathway, network, and pathway+network annotations, concluding that genes with high network connectivity are enriched for disease heritability (Kim et al. 2019; annotations here). We have also identified conditionally independent signals of disease heritability for transposable elements (Hormozdiari et al. 2019; annotations here). We have also evaluated conditionally independent signals of disease heritability for deep learning allelic-effect annotations, concluding that deep learning models have yet to achieve their full potential for complex disease and that their informativeness cannot be inferred from their accuracy in predictive regulatory annotations (Dey et al. 2020). The deep learning annotations can be downloaded here.
The latest version of EIGENSOFT (7.2.1) can be downloaded here. Source code, documentation and executables for using EIGENSOFT 6.1.4 on a Linux platform can be downloaded here. New features of EIGENSOFT 6.x include fastmode option which implements a very fast pca approximation (Galinsky et al. 2016a, Galinsky et al. 2016b) and support for multi-threading. EIGENSOFT 6.1.4 includes bug fixes for pcaselection and a better out of memory diagnostic message. Our previous release, version 6.1.3, can be downloaded here.
(July 2015) The haploSNP algorithm (Bhatia et al. biorxiv) constructs a set of haplotype polymorphisms (haploSNPs) from phased genotype data. haploSNPs are haplotypes of adjacent SNPs excluding a subset of masked sites that arise from skipped mismatches. Mismatches are skipped only if they can be potentially explained as mutations on a shared background. This is tested using a 4-gamete test between the haploSNP being extended and the mismatch SNP. If all 4 possible allelic combinations are observed, the mismatch cannot be explained as a mutation on a shared background, and the haploSNP is terminated.Individuals are considered to carry 0,1, or 2 copies of the haploSNP if none, one or both of their chromosomes matches the haplotype at all unmasked sites. As haploSNPs are biallelic, they can be used in downstream analyses such as heritability estimation and association.The haploSNP software can be downloaded here.
(March 2015) The LDpred software can be downloaded here. LDpred (Vilhjalmsson et al. 2015) is a method for computing polygenic risk scores from summary association statistics while accounting for LD between markers. The method infers the posterior mean causal effect size of each marker using a non-infinitesimal prior distribution on effect sizes and LD information from an external reference panel.
(May 2014): SNPweights version 2.1 can be downloaded here. SNPweights is a software package for inferring genome-wide genetic ancestry using SNP weights precomputed from large external reference panels (Chen et al. 2013 Bioinformatics). Changes to version 2.0 include new SNP weights for Native American reference samples, a new format for SNP weights files, and new software for users to derive SNP weights using their own reference samples. Version 2.1 incorporates a bug fix in the inferanc program, which now works with all snpwt files. SNP weights for European and West African ancestral populations can be downloaded here. SNP weights for European, West African and East Asian ancestral populations can be downloaded here. SNP weights for European, West African, East Asian and Native American ancestral populations can be downloaded here. SNP weights for NW, SE and AJ ancestral populations of European Americans can be downloaded here.
The gene association files ingested from GO Consortium members are shown in the table below. Files are in the GO annotation file format and are compressed using the UNIX gzip utility. Please see the upstream resource information for further details on the annotation set. Any errors or omissions in annotations should be reported by writing to the GO Helpdesk.
Ensembl is a genome browser for vertebrate genomes that supports research in comparative genomics, evolution, sequence variation and transcriptional regulation. Ensembl annotate genes, computes multiple alignments, predicts regulatory function and collects disease data. Ensembl tools include BLAST, BLAT, BioMart and the Variant Effect Predictor (VEP) for all supported species.
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Another explanation for the low divergence of the rice and millet MULE sequences could be that they occur within a genomic region that, for whatever reason, experienced lower than average mutation rates. If this were the case, sequences adjacent to the elements should also show reduced variation. The authors tested this alternative hypothesis with the help of maize, which has more genomic sequence available than millet, by comparing genes flanking MULE regions in rice with evolutionarily conserved sequences in maize. The sequences did not show the similar degree of reduced variation predicted for below-average mutation rates.
The RefSeq archaeal and bacterial genome assemblies are annotated and maintained copies of complete and whole-genome shotgun assemblies submitted to INSDC (Genbank, ENA and DDBJ) that meet sequence and annotation quality criteria. A genome assembly may be excluded from RefSeq for reasons related to sequence or annotation quality. Most notably, assemblies generated from environmental samples are excluded due to concerns with the accuracy of the organism assignment and possible cross-contamination.
Reference genomes are annotated with YP_ or NP_ protein accessions which in turn cross-reference the non-redundant protein records. Reference genomes are also annotated with the GeneID cross-reference to the NCBI Gene resource. You can browse the list of reference genomes in the NCBI Genome resource. Sequences and annotation for reference assemblies can be downloaded from Entrez Assembly.
Representative genomes are annotated with non-redundant RefSeq protein accessions (WP_ accession prefix) and display the protein product name that appears on the WP-accessioned record (see Protein data model below). Representatives for species with at least ten assemblies in RefSeq are annotated with a GeneID cross-reference to the NCBI Gene resource. You can browse the list of reference and representative genomes in the NCBI Genome resource. Sequences and annotation for the latest set of prokaryotic reference and representative genomes can be downloaded from Entrez Assembly.