Literature DB >> 20459810

A database and API for variation, dense genotyping and resequencing data.

Daniel Rios1, William M McLaren, Yuan Chen, Ewan Birney, Arne Stabenau, Paul Flicek, Fiona Cunningham.   

Abstract

BACKGROUND: Advances in sequencing and genotyping technologies are leading to the widespread availability of multi-species variation data, dense genotype data and large-scale resequencing projects. The 1000 Genomes Project and similar efforts in other species are challenging the methods previously used for storage and manipulation of such data necessitating the redesign of existing genome-wide bioinformatics resources.
RESULTS: Ensembl has created a database and software library to support data storage, analysis and access to the existing and emerging variation data from large mammalian and vertebrate genomes. These tools scale to thousands of individual genome sequences and are integrated into the Ensembl infrastructure for genome annotation and visualisation. The database and software system is easily expanded to integrate both public and non-public data sources in the context of an Ensembl software installation and is already being used outside of the Ensembl project in a number of database and application environments.
CONCLUSIONS: Ensembl's powerful, flexible and open source infrastructure for the management of variation, genotyping and resequencing data is freely available at http://www.ensembl.org.

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Year:  2010        PMID: 20459810      PMCID: PMC2882931          DOI: 10.1186/1471-2105-11-238

Source DB:  PubMed          Journal:  BMC Bioinformatics        ISSN: 1471-2105            Impact factor:   3.169


  23 in total

1.  Initial sequencing and analysis of the human genome.

Authors:  E S Lander; L M Linton; B Birren; C Nusbaum; M C Zody; J Baldwin; K Devon; K Dewar; M Doyle; W FitzHugh; R Funke; D Gage; K Harris; A Heaford; J Howland; L Kann; J Lehoczky; R LeVine; P McEwan; K McKernan; J Meldrim; J P Mesirov; C Miranda; W Morris; J Naylor; C Raymond; M Rosetti; R Santos; A Sheridan; C Sougnez; Y Stange-Thomann; N Stojanovic; A Subramanian; D Wyman; J Rogers; J Sulston; R Ainscough; S Beck; D Bentley; J Burton; C Clee; N Carter; A Coulson; R Deadman; P Deloukas; A Dunham; I Dunham; R Durbin; L French; D Grafham; S Gregory; T Hubbard; S Humphray; A Hunt; M Jones; C Lloyd; A McMurray; L Matthews; S Mercer; S Milne; J C Mullikin; A Mungall; R Plumb; M Ross; R Shownkeen; S Sims; R H Waterston; R K Wilson; L W Hillier; J D McPherson; M A Marra; E R Mardis; L A Fulton; A T Chinwalla; K H Pepin; W R Gish; S L Chissoe; M C Wendl; K D Delehaunty; T L Miner; A Delehaunty; J B Kramer; L L Cook; R S Fulton; D L Johnson; P J Minx; S W Clifton; T Hawkins; E Branscomb; P Predki; P Richardson; S Wenning; T Slezak; N Doggett; J F Cheng; A Olsen; S Lucas; C Elkin; E Uberbacher; M Frazier; R A Gibbs; D M Muzny; S E Scherer; J B Bouck; E J Sodergren; K C Worley; C M Rives; J H Gorrell; M L Metzker; S L Naylor; R S Kucherlapati; D L Nelson; G M Weinstock; Y Sakaki; A Fujiyama; M Hattori; T Yada; A Toyoda; T Itoh; C Kawagoe; H Watanabe; Y Totoki; T Taylor; J Weissenbach; R Heilig; W Saurin; F Artiguenave; P Brottier; T Bruls; E Pelletier; C Robert; P Wincker; D R Smith; L Doucette-Stamm; M Rubenfield; K Weinstock; H M Lee; J Dubois; A Rosenthal; M Platzer; G Nyakatura; S Taudien; A Rump; H Yang; J Yu; J Wang; G Huang; J Gu; L Hood; L Rowen; A Madan; S Qin; R W Davis; N A Federspiel; A P Abola; M J Proctor; R M Myers; J Schmutz; M Dickson; J Grimwood; D R Cox; M V Olson; R Kaul; C Raymond; N Shimizu; K Kawasaki; S Minoshima; G A Evans; M Athanasiou; R Schultz; B A Roe; F Chen; H Pan; J Ramser; H Lehrach; R Reinhardt; W R McCombie; M de la Bastide; N Dedhia; H Blöcker; K Hornischer; G Nordsiek; R Agarwala; L Aravind; J A Bailey; A Bateman; S Batzoglou; E Birney; P Bork; D G Brown; C B Burge; L Cerutti; H C Chen; D Church; M Clamp; R R Copley; T Doerks; S R Eddy; E E Eichler; T S Furey; J Galagan; J G Gilbert; C Harmon; Y Hayashizaki; D Haussler; H Hermjakob; K Hokamp; W Jang; L S Johnson; T A Jones; S Kasif; A Kaspryzk; S Kennedy; W J Kent; P Kitts; E V Koonin; I Korf; D Kulp; D Lancet; T M Lowe; A McLysaght; T Mikkelsen; J V Moran; N Mulder; V J Pollara; C P Ponting; G Schuler; J Schultz; G Slater; A F Smit; E Stupka; J Szustakowki; D Thierry-Mieg; J Thierry-Mieg; L Wagner; J Wallis; R Wheeler; A Williams; Y I Wolf; K H Wolfe; S P Yang; R F Yeh; F Collins; M S Guyer; J Peterson; A Felsenfeld; K A Wetterstrand; A Patrinos; M J Morgan; P de Jong; J J Catanese; K Osoegawa; H Shizuya; S Choi; Y J Chen; J Szustakowki
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

2.  SSAHA: a fast search method for large DNA databases.

Authors:  Z Ning; A J Cox; J C Mullikin
Journal:  Genome Res       Date:  2001-10       Impact factor: 9.043

3.  The UCSC Table Browser data retrieval tool.

Authors:  Donna Karolchik; Angela S Hinrichs; Terrence S Furey; Krishna M Roskin; Charles W Sugnet; David Haussler; W James Kent
Journal:  Nucleic Acids Res       Date:  2004-01-01       Impact factor: 16.971

Review 4.  The Ensembl core software libraries.

Authors:  Arne Stabenau; Graham McVicker; Craig Melsopp; Glenn Proctor; Michele Clamp; Ewan Birney
Journal:  Genome Res       Date:  2004-05       Impact factor: 9.043

5.  Haploview: analysis and visualization of LD and haplotype maps.

Authors:  J C Barrett; B Fry; J Maller; M J Daly
Journal:  Bioinformatics       Date:  2004-08-05       Impact factor: 6.937

6.  Ensembl variation resources.

Authors:  Yuan Chen; Fiona Cunningham; Daniel Rios; William M McLaren; James Smith; Bethan Pritchard; Giulietta M Spudich; Simon Brent; Eugene Kulesha; Pablo Marin-Garcia; Damian Smedley; Ewan Birney; Paul Flicek
Journal:  BMC Genomics       Date:  2010-05-11       Impact factor: 3.969

7.  The International HapMap Project Web site.

Authors:  Gudmundur A Thorisson; Albert V Smith; Lalitha Krishnan; Lincoln D Stein
Journal:  Genome Res       Date:  2005-11       Impact factor: 9.043

8.  Whole-genome patterns of common DNA variation in three human populations.

Authors:  David A Hinds; Laura L Stuve; Geoffrey B Nilsen; Eran Halperin; Eleazar Eskin; Dennis G Ballinger; Kelly A Frazer; David R Cox
Journal:  Science       Date:  2005-02-18       Impact factor: 47.728

9.  HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources.

Authors:  D Fredman; M Siegfried; Y P Yuan; P Bork; H Lehväslaiho; A J Brookes
Journal:  Nucleic Acids Res       Date:  2002-01-01       Impact factor: 16.971

10.  Finishing the euchromatic sequence of the human genome.

Authors: 
Journal:  Nature       Date:  2004-10-21       Impact factor: 49.962

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  24 in total

1.  Ensembl variation resources.

Authors:  Yuan Chen; Fiona Cunningham; Daniel Rios; William M McLaren; James Smith; Bethan Pritchard; Giulietta M Spudich; Simon Brent; Eugene Kulesha; Pablo Marin-Garcia; Damian Smedley; Ewan Birney; Paul Flicek
Journal:  BMC Genomics       Date:  2010-05-11       Impact factor: 3.969

Review 2.  Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.

Authors:  Khader Shameer; Lokesh P Tripathi; Krishna R Kalari; Joel T Dudley; Ramanathan Sowdhamini
Journal:  Brief Bioinform       Date:  2015-10-22       Impact factor: 11.622

3.  A combined functional annotation score for non-synonymous variants.

Authors:  Margarida C Lopes; Chris Joyce; Graham R S Ritchie; Sally L John; Fiona Cunningham; Jennifer Asimit; Eleftheria Zeggini
Journal:  Hum Hered       Date:  2012-01-18       Impact factor: 0.444

4.  Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Authors:  Angharad M Roberts; James S Ware; Daniel S Herman; Sebastian Schafer; John Baksi; Alexander G Bick; Rachel J Buchan; Roddy Walsh; Shibu John; Samuel Wilkinson; Francesco Mazzarotto; Leanne E Felkin; Sungsam Gong; Jacqueline A L MacArthur; Fiona Cunningham; Jason Flannick; Stacey B Gabriel; David M Altshuler; Peter S Macdonald; Matthias Heinig; Anne M Keogh; Christopher S Hayward; Nicholas R Banner; Dudley J Pennell; Declan P O'Regan; Tan Ru San; Antonio de Marvao; Timothy J W Dawes; Ankur Gulati; Emma J Birks; Magdi H Yacoub; Michael Radke; Michael Gotthardt; James G Wilson; Christopher J O'Donnell; Sanjay K Prasad; Paul J R Barton; Diane Fatkin; Norbert Hubner; Jonathan G Seidman; Christine E Seidman; Stuart A Cook
Journal:  Sci Transl Med       Date:  2015-01-14       Impact factor: 17.956

5.  Equivalent indels--ambiguous functional classes and redundancy in databases.

Authors:  Jens Assmus; Jürgen Kleffe; Armin O Schmitt; Gudrun A Brockmann
Journal:  PLoS One       Date:  2013-05-02       Impact factor: 3.240

6.  Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Authors:  Ella R Thompson; Maria A Doyle; Georgina L Ryland; Simone M Rowley; David Y H Choong; Richard W Tothill; Heather Thorne; Daniel R Barnes; Jason Li; Jason Ellul; Gayle K Philip; Yoland C Antill; Paul A James; Alison H Trainer; Gillian Mitchell; Ian G Campbell
Journal:  PLoS Genet       Date:  2012-09-27       Impact factor: 5.917

7.  Ensembl 2011.

Authors:  Paul Flicek; M Ridwan Amode; Daniel Barrell; Kathryn Beal; Simon Brent; Yuan Chen; Peter Clapham; Guy Coates; Susan Fairley; Stephen Fitzgerald; Leo Gordon; Maurice Hendrix; Thibaut Hourlier; Nathan Johnson; Andreas Kähäri; Damian Keefe; Stephen Keenan; Rhoda Kinsella; Felix Kokocinski; Eugene Kulesha; Pontus Larsson; Ian Longden; William McLaren; Bert Overduin; Bethan Pritchard; Harpreet Singh Riat; Daniel Rios; Graham R S Ritchie; Magali Ruffier; Michael Schuster; Daniel Sobral; Giulietta Spudich; Y Amy Tang; Stephen Trevanion; Jana Vandrovcova; Albert J Vilella; Simon White; Steven P Wilder; Amonida Zadissa; Jorge Zamora; Bronwen L Aken; Ewan Birney; Fiona Cunningham; Ian Dunham; Richard Durbin; Xosé M Fernández-Suarez; Javier Herrero; Tim J P Hubbard; Anne Parker; Glenn Proctor; Jan Vogel; Stephen M J Searle
Journal:  Nucleic Acids Res       Date:  2010-11-02       Impact factor: 16.971

8.  Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor.

Authors:  William McLaren; Bethan Pritchard; Daniel Rios; Yuan Chen; Paul Flicek; Fiona Cunningham
Journal:  Bioinformatics       Date:  2010-06-18       Impact factor: 6.937

9.  A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis.

Authors:  Rosella Mechelli; Renato Umeton; Claudia Policano; Viviana Annibali; Giulia Coarelli; Vito A G Ricigliano; Danila Vittori; Arianna Fornasiero; Maria Chiara Buscarinu; Silvia Romano; Marco Salvetti; Giovanni Ristori
Journal:  PLoS One       Date:  2013-05-16       Impact factor: 3.240

10.  Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Authors:  James S Ware; Shibu John; Angharad M Roberts; Rachel Buchan; Sungsam Gong; Nicholas S Peters; David O Robinson; Anneke Lucassen; Elijah R Behr; Stuart A Cook
Journal:  J Cardiovasc Transl Res       Date:  2012-09-07       Impact factor: 4.132

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