Finding HapMap Variation Data in Ensembl

Finding HapMap Variation Data in Ensembl

Continued HapMap variation data access through Ensembl NCBI have recently released plans to immediately retire their HapMap interface, however, data from the HapMap Project will continue to be freely accessible through Ensembl. There is lots of help and documentation as well as video tutorials to help Continue reading Finding HapMap Variation Data in Ensembl

1000 Genomes phase 3 frequencies, genotypes and LD data

1000 Genomes phase 3 frequencies, genotypes and LD data

Ensembl Variation recently incorporated the latest versions of the dbSNP and 1000 Genomes datasets. While we are able to import all of the variant loci from phase 3 of the 1000 Genomes project, the vast amount of genotype data (2500 Continue reading 1000 Genomes phase 3 frequencies, genotypes and LD data

dbSNP 142 and 1000 Genomes Phase 3

dbSNP 142 and 1000 Genomes Phase 3

Boom! Due to a somewhat catastrophic hardware failure during our production cycle for Ensembl release 79, we have only been able to release human dbSNP 142 incorporating 1000 Genomes phase 3 data on our GRCh37-based services (Web: grch37.ensembl.org, REST API: grch37.rest.ensembl.org, Continue reading dbSNP 142 and 1000 Genomes Phase 3

SIFT and PolyPhen predictions for human Ensembl and RefSeq proteins

SIFT and PolyPhen predictions for human Ensembl and RefSeq proteins

For release 67 we changed how we store the protein function predictions from SIFT and PolyPhen so that they also can be used for more than just Ensembl transcripts, including RefSeq transcripts. We use these tools to compute the predicted effect of every Continue reading SIFT and PolyPhen predictions for human Ensembl and RefSeq proteins