Sequence Polymorphisms

Links to various sequence polymorphism databases and resources concerning SNPs, short deletion, insertion polymorphisms and other unique genomic features.

Found 66 links

Displaying 15 links

ALFREDResource Content

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ALFRED: an allele frequency resource for research and teaching. Designed to make allele frequency data on human population samples readily available for use by the scientific and educational communities.

links directory index: 2
TitlePublication YearGoogle Scholar Citation Count
ALFRED: an allele frequency resource for research and teaching20122

ARTSDatabase Content

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ARTS (Advanced Retrieval Tool for SNPs) can be used to retrieve SNP that are polymorphic between several different mouse strains to aid in the design of genome-wide SNP marker panels.

AutoSNPdbTool Content

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SNPServer combines BLAST, cap3 and a SNP discovery module into a single pipeline for the discovery of SNPs in user submitted files or dynamically created assemblies.

links directory index: 41
TitlePublication YearGoogle Scholar Citation Count
SNPServer: a real-time SNP discovery tool200541

Cancer Genome Anatomy ProjectTool Content

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Goal is to determine the gene expression profiles of normal, precancer, and cancer cells; resources for human and mouse include ESTs, gene expression patterns, SNPs, cluster assemblies, cytogenetic information, and tools to query and analyze the data.

CARGOTool Content

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CARGO (Cancer And Related Genes Online) is a portal that uses widgets to allow users to mine literature using iHOP, retrieve disease information from OMIM, visualize 3D SNPs, query protein interactions, and view summarized gene annotation information for cancer related genes in human.

dbSNPDatabase Content

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Repository for both single base nucleotide subsitutions and short deletion and insertion polymorphisms; NCBI collaboration with NHGRI.

links directory index: 43
TitlePublication YearGoogle Scholar Citation Count
Genome-wide evaluation of the public SNP databases200343

DistiLDDatabase Content

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Diseases and traits in linkage disequilibrium (LD) blocks. Data from HapMap Project is used to partition chromosomal regions which are associated with a disease into LD blocks. This allows researchers to answer the question of which SNPs associated with diseases are in LD with a gene of interest?

DNA Methylation DatabaseDatabase Content

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The database contains information about the occurrence of methylated cytosines in the DNA.

links directory index: not available
TitlePublication YearGoogle Scholar Citation Count

FastSNPTool Content

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Function Analysis and Selection Tool for Single Nucleotide Polymorphisms (FastSNP) allows users to identify and prioritize SNPs that are likely to have functional effects.

This content is being maintained by fastsnp.

g:ProfilerTool Content

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g:Profiler is a set of tools for functional annotation of gene lists that includes: g:GOSt, which retrieves the most significant Gene Ontology (GO) terms, KEGG and REACTOME pathways, and TRANSFAC motifs; g:Convert, for conversion between gene or protein names/IDs; g:Orth, for retrieving orthologs; and, g:Sorter, which searches for similar expression profiles. Functional analysis of SNPs and other DNA polymorphisms is also supported, as is enrichment analysis.

GVSTool Content

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Genome Variation Server (GVS) is a database that provides access to human genotype data found in dbSNP, and tools for the analysis of genotype data.

links directory index: not available
TitlePublication YearGoogle Scholar Citation Count

HaploRegResource Content

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Resource for exploring annotations of noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. Linked SNPs and small indels can be visualized along with their predicted chroatin state.

HGVbaseDatabase Content

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Human Genome Variation database - curated; attempt to summarize all known sequence variations in the human genome, to facilitate research into how genotypes affect common diseases, drug responses, and other complex phenotypes.

HomozygosityMapperTool Content

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A web base approach to homozygosity mapping. Users upload SNP genotype or sequencing files for analysis and detection of long homozygous stretches between affected individuals. Human, rodent and other mammals are mappable.

This content is being maintained by dominik.

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