* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download Click Here
Gene therapy of the human retina wikipedia , lookup
Genomic imprinting wikipedia , lookup
Epigenetics of neurodegenerative diseases wikipedia , lookup
Oncogenomics wikipedia , lookup
Epigenetics of human development wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
Point mutation wikipedia , lookup
Segmental Duplication on the Human Y Chromosome wikipedia , lookup
Gene therapy wikipedia , lookup
Human genetic variation wikipedia , lookup
Genetic engineering wikipedia , lookup
Copy-number variation wikipedia , lookup
Gene expression programming wikipedia , lookup
Gene desert wikipedia , lookup
Transposable element wikipedia , lookup
Gene nomenclature wikipedia , lookup
Metagenomics wikipedia , lookup
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing wikipedia , lookup
Non-coding DNA wikipedia , lookup
Therapeutic gene modulation wikipedia , lookup
Microevolution wikipedia , lookup
History of genetic engineering wikipedia , lookup
Public health genomics wikipedia , lookup
Gene expression profiling wikipedia , lookup
Whole genome sequencing wikipedia , lookup
Genomic library wikipedia , lookup
Pathogenomics wikipedia , lookup
Helitron (biology) wikipedia , lookup
Minimal genome wikipedia , lookup
Designer baby wikipedia , lookup
Genome (book) wikipedia , lookup
Site-specific recombinase technology wikipedia , lookup
Human genome wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Genome editing wikipedia , lookup
ENSEMBL ANNOTATION OF HUMAN GRCh37. Better algorithms for a better human. J. Fernandez-Banet1, B. Aken1, S. Fairley1, M. Ruffier1, M. Schuster2, S. Searle1, A. Tang1, J. Vogel1, S. White1, A Zadissa1, T. Hubbard1. Wellcome Trust Sanger Institute1 and European Bioinformatics Institute2, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK. In February 2009 the Genome Reference Consortium released a new human genome assembly, GRCh37. This new assembly improved the general quality of the whole genome sequence. In addition it also includes alternative assemblies for a number of haplotypic regions. EnsEMBL aims to produce a set of annotation rapidly, whilst at the same time introducing new algorithms that improve its quality. Traditionally Ensembl has only used protein to genome alignment to build CDS structures with UTR added from cDNA alignments. Here we present how combining the models obtained from protein alignments with those obtained from cDNAs using exonerate's cdna2genome model has helped us produce a more refined gene set which exactly matches a higher percentage of the protein sets distributed by RefSeq and SwissProt databases. The introduction of a higher number of haplotypes for GRCh37 added an extra level of complexity to the gene annotation process as only the best alignment for each individual sequence gets selected for gene annotation. We have developed a method to project the annotation between the reference chromosome and the haplotypes described for the same region improving the number of models build in non reference sequences, and making it possible to link alternative alleles of genes. Custom methods have been used to annotate immunoglobulins and selenocysteine containing genes. The CCDS gene set and manual annotation from Havana have also been incorporated in the annotation set. The quality checks performed in EnsEMBL human annotation for GRCh37 show it as our highest quality annotation on a human genome to date.