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1.  Current status and new features of the Consensus Coding Sequence database  
Nucleic Acids Research  2013;42(Database issue):D865-D872.
The Consensus Coding Sequence (CCDS) project (http://www.ncbi.nlm.nih.gov/CCDS/) is a collaborative effort to maintain a dataset of protein-coding regions that are identically annotated on the human and mouse reference genome assemblies by the National Center for Biotechnology Information (NCBI) and Ensembl genome annotation pipelines. Identical annotations that pass quality assurance tests are tracked with a stable identifier (CCDS ID). Members of the collaboration, who are from NCBI, the Wellcome Trust Sanger Institute and the University of California Santa Cruz, provide coordinated and continuous review of the dataset to ensure high-quality CCDS representations. We describe here the current status and recent growth in the CCDS dataset, as well as recent changes to the CCDS web and FTP sites. These changes include more explicit reporting about the NCBI and Ensembl annotation releases being compared, new search and display options, the addition of biologically descriptive information and our approach to representing genes for which support evidence is incomplete. We also present a summary of recent and future curation targets.
doi:10.1093/nar/gkt1059
PMCID: PMC3965069  PMID: 24217909
2.  The non-obese diabetic mouse sequence, annotation and variation resource: an aid for investigating type 1 diabetes 
Model organisms are becoming increasingly important for the study of complex diseases such as type 1 diabetes (T1D). The non-obese diabetic (NOD) mouse is an experimental model for T1D having been bred to develop the disease spontaneously in a process that is similar to humans. Genetic analysis of the NOD mouse has identified around 50 disease loci, which have the nomenclature Idd for insulin-dependent diabetes, distributed across at least 11 different chromosomes. In total, 21 Idd regions across 6 chromosomes, that are major contributors to T1D susceptibility or resistance, were selected for finished sequencing and annotation at the Wellcome Trust Sanger Institute. Here we describe the generation of 40.4 mega base-pairs of finished sequence from 289 bacterial artificial chromosomes for the NOD mouse. Manual annotation has identified 738 genes in the diabetes sensitive NOD mouse and 765 genes in homologous regions of the diabetes resistant C57BL/6J reference mouse across 19 candidate Idd regions. This has allowed us to call variation consequences between homologous exonic sequences for all annotated regions in the two mouse strains. We demonstrate the importance of this resource further by illustrating the technical difficulties that regions of inter-strain structural variation between the NOD mouse and the C57BL/6J reference mouse can cause for current next generation sequencing and assembly techniques. Furthermore, we have established that the variation rate in the Idd regions is 2.3 times higher than the mean found for the whole genome assembly for the NOD/ShiLtJ genome, which we suggest reflects the fact that positive selection for functional variation in immune genes is beneficial in regard to host defence. In summary, we provide an important resource, which aids the analysis of potential causative genes involved in T1D susceptibility.
Database URLs: http://www.sanger.ac.uk/resources/mouse/nod/; http://vega-previous.sanger.ac.uk/info/data/mouse_regions.html
doi:10.1093/database/bat032
PMCID: PMC3668384  PMID: 23729657
3.  Sequencing and comparative analysis of the gorilla MHC genomic sequence 
Major histocompatibility complex (MHC) genes play a critical role in vertebrate immune response and because the MHC is linked to a significant number of auto-immune and other diseases it is of great medical interest. Here we describe the clone-based sequencing and subsequent annotation of the MHC region of the gorilla genome. Because the MHC is subject to extensive variation, both structural and sequence-wise, it is not readily amenable to study in whole genome shotgun sequence such as the recently published gorilla genome. The variation of the MHC also makes it of evolutionary interest and therefore we analyse the sequence in the context of human and chimpanzee. In our comparisons with human and re-annotated chimpanzee MHC sequence we find that gorilla has a trimodular RCCX cluster, versus the reference human bimodular cluster, and additional copies of Class I (pseudo)genes between Gogo-K and Gogo-A (the orthologues of HLA-K and -A). We also find that Gogo-H (and Patr-H) is coding versus the HLA-H pseudogene and, conversely, there is a Gogo-DQB2 pseudogene versus the HLA-DQB2 coding gene. Our analysis, which is freely available through the VEGA genome browser, provides the research community with a comprehensive dataset for comparative and evolutionary research of the MHC.
doi:10.1093/database/bat011
PMCID: PMC3626023  PMID: 23589541
4.  Analyses of pig genomes provide insight into porcine demography and evolution 
Groenen, Martien A. M. | Archibald, Alan L. | Uenishi, Hirohide | Tuggle, Christopher K. | Takeuchi, Yasuhiro | Rothschild, Max F. | Rogel-Gaillard, Claire | Park, Chankyu | Milan, Denis | Megens, Hendrik-Jan | Li, Shengting | Larkin, Denis M. | Kim, Heebal | Frantz, Laurent A. F. | Caccamo, Mario | Ahn, Hyeonju | Aken, Bronwen L. | Anselmo, Anna | Anthon, Christian | Auvil, Loretta | Badaoui, Bouabid | Beattie, Craig W. | Bendixen, Christian | Berman, Daniel | Blecha, Frank | Blomberg, Jonas | Bolund, Lars | Bosse, Mirte | Botti, Sara | Bujie, Zhan | Bystrom, Megan | Capitanu, Boris | Silva, Denise Carvalho | Chardon, Patrick | Chen, Celine | Cheng, Ryan | Choi, Sang-Haeng | Chow, William | Clark, Richard C. | Clee, Christopher | Crooijmans, Richard P. M. A. | Dawson, Harry D. | Dehais, Patrice | De Sapio, Fioravante | Dibbits, Bert | Drou, Nizar | Du, Zhi-Qiang | Eversole, Kellye | Fadista, João | Fairley, Susan | Faraut, Thomas | Faulkner, Geoffrey J. | Fowler, Katie E. | Fredholm, Merete | Fritz, Eric | Gilbert, James G. R. | Giuffra, Elisabetta | Gorodkin, Jan | Griffin, Darren K. | Harrow, Jennifer L. | Hayward, Alexander | Howe, Kerstin | Hu, Zhi-Liang | Humphray, Sean J. | Hunt, Toby | Hornshøj, Henrik | Jeon, Jin-Tae | Jern, Patric | Jones, Matthew | Jurka, Jerzy | Kanamori, Hiroyuki | Kapetanovic, Ronan | Kim, Jaebum | Kim, Jae-Hwan | Kim, Kyu-Won | Kim, Tae-Hun | Larson, Greger | Lee, Kyooyeol | Lee, Kyung-Tai | Leggett, Richard | Lewin, Harris A. | Li, Yingrui | Liu, Wansheng | Loveland, Jane E. | Lu, Yao | Lunney, Joan K. | Ma, Jian | Madsen, Ole | Mann, Katherine | Matthews, Lucy | McLaren, Stuart | Morozumi, Takeya | Murtaugh, Michael P. | Narayan, Jitendra | Nguyen, Dinh Truong | Ni, Peixiang | Oh, Song-Jung | Onteru, Suneel | Panitz, Frank | Park, Eung-Woo | Park, Hong-Seog | Pascal, Geraldine | Paudel, Yogesh | Perez-Enciso, Miguel | Ramirez-Gonzalez, Ricardo | Reecy, James M. | Zas, Sandra Rodriguez | Rohrer, Gary A. | Rund, Lauretta | Sang, Yongming | Schachtschneider, Kyle | Schraiber, Joshua G. | Schwartz, John | Scobie, Linda | Scott, Carol | Searle, Stephen | Servin, Bertrand | Southey, Bruce R. | Sperber, Goran | Stadler, Peter | Sweedler, Jonathan V. | Tafer, Hakim | Thomsen, Bo | Wali, Rashmi | Wang, Jian | Wang, Jun | White, Simon | Xu, Xun | Yerle, Martine | Zhang, Guojie | Zhang, Jianguo | Zhang, Jie | Zhao, Shuhong | Rogers, Jane | Churcher, Carol | Schook, Lawrence B.
Nature  2012;491(7424):393-398.
For 10,000 years pigs and humans have shared a close and complex relationship. From domestication to modern breeding practices, humans have shaped the genomes of domestic pigs. Here we present the assembly and analysis of the genome sequence of a female domestic Duroc pig (Sus scrofa) and a comparison with the genomes of wild and domestic pigs from Europe and Asia. Wild pigs emerged in South East Asia and subsequently spread across Eurasia. Our results reveal a deep phylogenetic split between European and Asian wild boars ~1 million years ago, and a selective sweep analysis indicates selection on genes involved in RNA processing and regulation. Genes associated with immune response and olfaction exhibit fast evolution. Pigs have the largest repertoire of functional olfactory receptor genes, reflecting the importance of smell in this scavenging animal. The pig genome sequence provides an important resource for further improvements of this important livestock species, and our identification of many putative disease-causing variants extends the potential of the pig as a biomedical model.
doi:10.1038/nature11622
PMCID: PMC3566564  PMID: 23151582
5.  Community gene annotation in practice 
Manual annotation of genomic data is extremely valuable to produce an accurate reference gene set but is expensive compared with automatic methods and so has been limited to model organisms. Annotation tools that have been developed at the Wellcome Trust Sanger Institute (WTSI, http://www.sanger.ac.uk/.) are being used to fill that gap, as they can be used remotely and so open up viable community annotation collaborations. We introduce the ‘Blessed’ annotator and ‘Gatekeeper’ approach to Community Annotation using the Otterlace/ZMap genome annotation tool. We also describe the strategies adopted for annotation consistency, quality control and viewing of the annotation.
Database URL: http://vega.sanger.ac.uk/index.html
doi:10.1093/database/bas009
PMCID: PMC3308165  PMID: 22434843
6.  Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project 
Immunogenetics  2008;60(1):1-18.
The human major histocompatibility complex (MHC) is contained within about 4 Mb on the short arm of chromosome 6 and is recognised as the most variable region in the human genome. The primary aim of the MHC Haplotype Project was to provide a comprehensively annotated reference sequence of a single, human leukocyte antigen-homozygous MHC haplotype and to use it as a basis against which variations could be assessed from seven other similarly homozygous cell lines, representative of the most common MHC haplotypes in the European population. Comparison of the haplotype sequences, including four haplotypes not previously analysed, resulted in the identification of >44,000 variations, both substitutions and indels (insertions and deletions), which have been submitted to the dbSNP database. The gene annotation uncovered haplotype-specific differences and confirmed the presence of more than 300 loci, including over 160 protein-coding genes. Combined analysis of the variation and annotation datasets revealed 122 gene loci with coding substitutions of which 97 were non-synonymous. The haplotype (A3-B7-DR15; PGF cell line) designated as the new MHC reference sequence, has been incorporated into the human genome assembly (NCBI35 and subsequent builds), and constitutes the largest single-haplotype sequence of the human genome to date. The extensive variation and annotation data derived from the analysis of seven further haplotypes have been made publicly available and provide a framework and resource for future association studies of all MHC-associated diseases and transplant medicine.
doi:10.1007/s00251-007-0262-2
PMCID: PMC2206249  PMID: 18193213
Major histocompatibility complex; Haplotype; Polymorphism; Retroelement; Genetic predisposition to disease; Population genetics

Results 1-6 (6)