InterPro, an integrated documentation resource of protein families, domains and functional
sites, was created to integrate the major protein signature databases. Currently, it includes …

The Wellcome Trust Sanger Institute is one of the world's largest genome centers, and a
substantial amount of our sequencing is performed with 'next-generation' massively parallel …

Ensembl ( http://www.ensembl.org/ ) is a bioinformatics project to organize biological
information around the sequences of large genomes. It is a comprehensive source of stable …

Probabilistic models are becoming increasingly important in analysing the huge amount of
data being produced by large-scale DNA-sequencing efforts such as the Human Genome …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

The variant call format (VCF) is a generic format for storing DNA polymorphism data such as
SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is …

Pfam is a large collection of protein families and domains. Over the past 2 years the number
of families in Pfam has doubled and now stands at 6190 (version 10.0). Methodology …

High-quality and complete reference genome assemblies are fundamental for the application
of genomics to biology, disease, and biodiversity conservation. However, such assemblies …

A principal challenge currently facing biologists is how to connect the complete DNA sequence
of an organism to its development and behaviour. Large-scale targeted-deletions have …

Pfam is a database of protein families that currently contains 7973 entries (release 18.0). A
recent development in Pfam has enabled the grouping of related families into clans. Pfam …