Supports finding human phenotype/genotype relationships with queries by phenotype, chromosome location, gene, and SNP identifiers. Currently includes information from dbGaP, the National Human Genome Research Institute (NHGRI) genome-wide association study (GWAS) Catalog, and Genotype - Tissue Expression (GTeX).
The Sequence Read Archive (SRA) stores sequencing data from the next generation of sequencing platforms including Roche 454 GS System®, Illumina Genome Analyzer®, Life Technologies AB SOLiD System®, Helicos Biosciences Heliscope®, Complete Genomics®, and Pacific Biosciences SMRT®.
This site is for browsing WGS (Whole Genome Shotgun) genomes, TSA (Transcriptome Shotgun Assemblies) and TLS (Targeted Locus Study) sets. WGS sequences are incomplete genomes that have been sequenced by a whole genome shotgun strategy. TSA sequences are transcript sequences that have been computationally assembled from primary RNA sequence data. TLS sequences are large-scale marker gene sequencing studies.
This genetic variation services interconvert and transform short genetic variants between HGVS expressions, VCF format, and the new SPDI (Sequence Position Deletion Insertion) format, based on alignment datasets used by ClinVar and dbSNP. NOTE: This service is still in beta testing mode